Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	SNV Germline	Chr5:78781974	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, type vi, severe Mucopolysaccharidosis type 6 Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA114603	rs_118203941	8 SubmittersRCV000000928 RCV000179701 RCV000723435 RCV000779751
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	SNV Germline	Chr5:78964477	Pathogenic	Mucopolysaccharidosis type 6 Condition: not provided Metachromatic leukodystrophy ARSB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114609	rs_118203943	16 SubmittersRCV000000933 RCV000078003 RCV000779747 RCV003904792
NM_000487.6(ARSA):c.465+1G>A	SNV Germline	Chr22:50627165	Pathogenic	Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy Neurodevelopmental disorder Inborn genetic diseases See cases ARSA-related disorder Condition: not provided Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA215122	rs_80338815	42 SubmittersRCV000003192 RCV000003194 RCV000020319 RCV001778645 RCV001267384 RCV002251862 RCV003934795 RCV000335617 RCV001251910
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	SNV Germline	Chr22:50625392	Pathogenic	Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy Condition: not provided Intellectual disability ARSA-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA115956	rs_28940893	29 SubmittersRCV000003195 RCV000003196 RCV000003197 RCV000020314 RCV000392246 RCV001251909 RCV004755702 RCV004797751
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)	SNV Germline	Chr22:50627329	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115958	rs_74315455	9 SubmittersRCV000003198 RCV000020318 RCV000724149
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	SNV Germline	Chr22:50627338	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, late infantile form Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115960	rs_74315456	16 SubmittersRCV000003199 RCV000020317 RCV000723374
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	SNV Germline	Chr22:50626976	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115962	rs_74315457	27 SubmittersRCV000003202 RCV000003203 RCV000020320 RCV000657846 RCV001267385
NM_000487.6(ARSA):c.1210+1G>A	SNV Germline	Chr22:50625578	Pathogenic	Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115964	rs_80338820	9 SubmittersRCV000003204 RCV000020312 RCV000723835
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	SNV Germline	Chr22:50626202	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy, late infantile form Metachromatic leukodystrophy PSEUDOARYLSULFATASE A DEFICIENCY Abnormality of the nervous system Condition: not provided	Criteria Provided Conflicting Classifications	CA115967	rs_74315459	14 SubmittersRCV000003206 RCV000666302 RCV000714802 RCV001813940 RCV002286693
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp)	SNV Germline	Chr22:50627368	Pathogenic	METACHROMATIC LEUKODYSTROPHY, SEVERE Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA115969	rs_74315460	2 SubmittersRCV000003207 RCV001353057
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)	SNV Germline	Chr22:50627261	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided Inborn genetic diseases ARSA-related disorder	Criteria Provided Conflicting Classifications	CA220987	rs_74315461	9 SubmittersRCV000003209 RCV000078945 RCV000623394 RCV003415633
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)	SNV Germline	Chr22:50627218	Pathogenic	METACHROMATIC LEUKODYSTROPHY, SEVERE Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115977	rs_74315462	5 SubmittersRCV000003210 RCV000675081
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)	SNV Germline	Chr22:50627051	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278026	rs_74315463	6 SubmittersRCV000003212
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	SNV Germline	Chr22:50627007	Conflicting classifications of pathogenicity	ARYLSULFATASE A PSEUDODEFICIENCY Metachromatic leukodystrophy Intellectual disability not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA115981	rs_74315466	9 SubmittersRCV000003215 RCV000540770 RCV001251908 RCV002265546 RCV003480017
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)	SNV Germline	Chr22:50626877	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340036	rs_74315467	11 SubmittersRCV000003216 RCV000723836
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)	SNV Germline	Chr22:50626841	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA278030	rs_74315468	6 SubmittersRCV000003217 RCV000343115
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	SNV Germline	Chr22:50626709	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Metachromatic leukodystrophy, juvenile type	Criteria Provided Multiple Submitters No Conflicts	CA278034	rs_74315470	8 SubmittersRCV000003219 RCV003993733
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	SNV Germline	Chr22:50626706	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy METACHROMATIC LEUKODYSTROPHY, SEVERE Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115983	rs_74315471	12 SubmittersRCV000020321 RCV000003220 RCV000723992
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	SNV Germline	Chr22:50626618	Pathogenic	METACHROMATIC LEUKODYSTROPHY, SEVERE Metachromatic leukodystrophy Condition: not provided ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115985	rs_74315472	12 SubmittersRCV000003221 RCV000169246 RCV000991546 RCV003904799
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	SNV Germline	Chr22:50626265	Pathogenic	Metachromatic leukodystrophy Spastic ataxia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278036	rs_74315473	7 SubmittersRCV000003223 RCV001642197 RCV004819990
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)	SNV Germline	Chr22:50626243	Pathogenic	METACHROMATIC LEUKODYSTROPHY, SEVERE Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA115987	rs_74315474	3 SubmittersRCV000003224 RCV000492011
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	SNV Germline	Chr22:50626033	Pathogenic	METACHROMATIC LEUKODYSTROPHY, SEVERE Metachromatic leukodystrophy Condition: not provided Leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115989	rs_74315475	14 SubmittersRCV000003226 RCV000169024 RCV000413321 RCV000414806
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	SNV Germline	Chr22:50625675	Pathogenic	METACHROMATIC LEUKODYSTROPHY, SEVERE Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115991	rs_74315476	12 SubmittersRCV000003227 RCV000078933 RCV000723522
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)	SNV Germline	Chr22:50625674	Pathogenic/Likely pathogenic	METACHROMATIC LEUKODYSTROPHY, MILD Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115993	rs_74315477	9 SubmittersRCV000003228 RCV000544790
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)	SNV Germline	Chr22:50625653	Pathogenic	ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115995	rs_74315478	4 SubmittersRCV000003229 RCV002512051 RCV003500499
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	SNV Germline	Chr22:50625639	Pathogenic/Likely pathogenic	ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115997	rs_74315479	10 SubmittersRCV000003230 RCV000078936 RCV000723624
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	SNV Germline	Chr22:50625615	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA278038	rs_74315480	11 SubmittersRCV000003231 RCV000723375
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)	SNV Germline	Chr22:50625443	Pathogenic/Likely pathogenic	METACHROMATIC LEUKODYSTROPHY, MILD Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115999	rs_74315481	5 SubmittersRCV000003233 RCV000020313
NM_000487.6(ARSA):c.410T>C (p.Leu137Pro)	SNV Germline	Chr22:50627221	Pathogenic	Metachromatic leukodystrophy, adult type	No Assertion Criteria Provided	CA116003	rs_121434215	1 SubmittersRCV000003235
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)	SNV Germline	Chr22:50626271	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA116005	rs_28940894	6 SubmittersRCV000003236 RCV000795605 RCV004755703
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)	SNV Germline	Chr22:50626682	Pathogenic	Metachromatic leukodystrophy, late infantile form Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116007	rs_74315483	8 SubmittersRCV000003237 RCV000169048 RCV000364541
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile)	SNV Germline	Chr22:50625446	Likely pathogenic	Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA116009	rs_28940895	3 SubmittersRCV000003238 RCV001376978
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe)	SNV Germline	Chr22:50626228	Pathogenic	Metachromatic leukodystrophy, late infantile form Condition: not provided	No Assertion Criteria Provided	CA116011	rs_74315484	2 SubmittersRCV000003239 RCV000058989
NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr)	SNV Germline	Chr22:50625396	Pathogenic	Metachromatic leukodystrophy, juvenile type	No Assertion Criteria Provided	CA116013	rs_74315485	1 SubmittersRCV000003240
NM_002778.4(PSAP):c.777+1915C>A	SNV Germline	Chr10:71823922	Likely pathogenic	Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA594309265	rs_759960679	2 SubmittersRCV000014290 RCV005237377
NM_002778.4(PSAP):c.643A>C (p.Asn215His)	SNV Germline	Chr10:71828091	Pathogenic/Likely pathogenic	Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy PSAP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123063	rs_121918107	5 SubmittersRCV000014296 RCV005606634 RCV003398506
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)	SNV Germline	Chr10:71819860	Likely pathogenic	Gaucher disease due to saposin C deficiency Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA123069	rs_121918110	2 SubmittersRCV000014301 RCV003317034
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)	SNV Germline	Chr22:50627374	Pathogenic	METACHROMATIC LEUKODYSTROPHY, LATE-ONSET Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115965	rs_74315458	16 SubmittersRCV000003205 RCV000020316 RCV000723563
NM_000487.6(ARSA):c.769G>C (p.Asp257His)	SNV Germline	Chr22:50626676	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341708	rs_80338819	11 SubmittersRCV000020322 RCV000255092
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)	SNV Germline	Chr22:50625633	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA218986	rs_199476370	8 SubmittersRCV000058945 RCV001329307 RCV003387751
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)	SNV Germline	Chr22:50625614	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA218988	rs_199476391	7 SubmittersRCV000058946 RCV000150058
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)	SNV Germline	Chr22:50625594	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA218990	rs_199476376	5 SubmittersRCV000058947 RCV000672049
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)	SNV Germline	Chr22:50625386	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA218994	rs_199476392	6 SubmittersRCV000058949 RCV002514296
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)	SNV Germline	Chr22:50625383	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA218996	rs_199476380	4 SubmittersRCV000058950 RCV001854228
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)	SNV Germline	Chr22:50625204	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219000	rs_199476388	6 SubmittersRCV000058952 RCV000667096
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro)	SNV Germline	Chr22:50627571	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219004	rs_199476351	3 SubmittersRCV000058954 RCV003500500
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)	SNV Germline	Chr22:50627375	Pathogenic	Condition: not provided Metachromatic leukodystrophy Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA219008	rs_199476352	6 SubmittersRCV000058956 RCV000409776 RCV001090098
NM_000487.6(ARSA):c.302G>T (p.Gly101Val)	SNV Germline	Chr22:50627329	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219014	rs_74315455	5 SubmittersRCV000058960 RCV000803574
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser)	SNV Germline	Chr22:50627219	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219018	rs_60504011	4 SubmittersRCV000058962 RCV001854229
NM_000487.6(ARSA):c.418C>G (p.His140Asp)	SNV Germline	Chr22:50627213	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219020	rs_199476358	6 SubmittersRCV000058963 RCV000667286
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly)	SNV Germline	Chr22:50627198	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219022	rs_199476373	3 SubmittersRCV000058964 RCV001242589
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	SNV Germline	Chr22:50627182	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219024	rs_199476375	10 SubmittersRCV000058965 RCV000631449
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr)	SNV Germline	Chr22:50627171	Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219026	rs_199476365	2 SubmittersRCV000058966 RCV002513773
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)	SNV Germline	Chr22:50627048	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219030	rs_74315464	3 SubmittersRCV000058968 RCV000778670
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr)	SNV Germline	Chr22:50626941	Conflicting classifications of pathogenicity	Condition: not provided not specified Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219040	rs_199476374	4 SubmittersRCV000058973 RCV004782039 RCV003500501
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)	SNV Germline	Chr22:50626910	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219044	rs_199476345	4 SubmittersRCV000058975 RCV000664907
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro)	SNV Germline	Chr22:50626878	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219046	rs_199476341	5 SubmittersRCV000058976 RCV001380269
NM_000487.6(ARSA):c.737G>A (p.Arg246His)	SNV Germline	Chr22:50626708	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219052	rs_199476366	9 SubmittersRCV000058979 RCV000150061
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)	SNV Germline	Chr22:50626699	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219054	rs_199476384	5 SubmittersRCV000058980 RCV000524971
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr)	SNV Germline	Chr22:50626690	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219056	rs_199476367	2 SubmittersRCV000058981 RCV002247460
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)	SNV Germline	Chr22:50626598	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219058	rs_199476386	6 SubmittersRCV000058982 RCV000668155
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)	SNV Germline	Chr22:50626594	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219060	rs_199476342	6 SubmittersRCV000058983 RCV002283451
NM_000487.6(ARSA):c.869G>A (p.Arg290His)	SNV Germline	Chr22:50626264	Pathogenic/Likely pathogenic	Condition: not provided ARSA-related disorder Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA219062	rs_199476355	13 SubmittersRCV000058984 RCV003905027 RCV000668693 RCV004019068
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	SNV Germline	Chr22:50626250	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	Criteria Provided Multiple Submitters No Conflicts	CA219064	rs_199476349	13 SubmittersRCV000058985 RCV000150060 RCV005208124
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)	SNV Germline	Chr22:50626249	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219066	rs_199476387	3 SubmittersRCV000058986 RCV001150625
NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr)	SNV Germline	Chr22:50626246	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219068	rs_199476347	4 SubmittersRCV000058987 RCV005089490
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)	SNV Germline	Chr22:50626234	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219070	rs_199476389	5 SubmittersRCV000058988 RCV001854230
NM_000487.6(ARSA):c.912G>C (p.Lys304Asn)	SNV Germline	Chr22:50626221	Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	No Assertion Criteria Provided	CA219072	rs_199476343	2 SubmittersRCV000058990 RCV005614378
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	SNV Germline	Chr22:50626216	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219074	rs_199476359	10 SubmittersRCV000058991 RCV000578460
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)	SNV Germline	Chr22:50626211	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219078	rs_199476379	3 SubmittersRCV000058993 RCV000670369
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)	SNV Germline	Chr22:50626208	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219080	rs_199476360	7 SubmittersRCV000058994 RCV001039188
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)	SNV Germline	Chr22:50626204	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA219082	rs_199476356	4 SubmittersRCV000058995 RCV000695949 RCV004799773
NM_000487.6(ARSA):c.929G>T (p.Gly310Val)	SNV Germline	Chr22:50626204	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219084	rs_199476356	2 SubmittersRCV000058996 RCV000995697
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)	SNV Germline	Chr22:50626195	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219086	rs_199476382	9 SubmittersRCV000058997 RCV000984245
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)	SNV Germline	Chr22:50626191	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219088	rs_199476390	4 SubmittersRCV000058998 RCV001004415
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)	SNV Germline	Chr22:50626187	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA219090	rs_199476368	6 SubmittersRCV000058999 RCV000665708 RCV004586532
NM_000487.6(ARSA):c.1108-2A>G	SNV Germline	Chr22:50625683	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278420	rs_398123411	8 SubmittersRCV000078932 RCV000482171
NM_000487.6(ARSA):c.1211-10C>T	SNV Germline	Chr22:50625474	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA220986	rs_398123413	3 SubmittersRCV000078939 RCV001087723 RCV003935025
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)	SNV Germline	Chr22:50626057	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278425	rs_398123418	5 SubmittersRCV000078952 RCV000723561
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)	SNV Germline	Chr22:50626052	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278427	rs_398123419	4 SubmittersRCV000078953 RCV000723562
NM_000487.6(ARSA):c.465G>A (p.Gln155=)	SNV Germline	Chr22:50627166	Conflicting classifications of pathogenicity	Condition: not provided not specified Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA233477	rs_199476377	3 SubmittersRCV000152793 RCV001582624 RCV001850084
NM_000487.6(ARSA):c.979+1G>A	SNV Germline	Chr22:50626153	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278479	rs_754722529	5 SubmittersRCV000169323 RCV003151752
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)	SNV Germline	Chr22:50626878	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA243175	rs_199476341	6 SubmittersRCV000177069 RCV002517708
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly)	SNV Germline	Chr22:50626232	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA245949	rs_794727704	3 SubmittersRCV000178780 RCV000691986
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)	SNV Germline	Chr22:50625228	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA247540	rs_148352371	7 SubmittersRCV000180165 RCV000388131 RCV003927699
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)	SNV Germline	Chr22:50627044	Pathogenic	Condition: not provided Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10325000	rs_768028181	8 SubmittersRCV000254939 RCV000984244 RCV004755833
NM_000487.6(ARSA):c.854+1G>T	SNV Germline	Chr22:50626590	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603518	rs_886041911	2 SubmittersRCV000263067 RCV001855074
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	SNV Germline	Chr22:50627285	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603751	rs_761860059	12 SubmittersRCV000364716 RCV000984243
NM_000487.6(ARSA):c.930C>T (p.Gly310=)	SNV Germline	Chr22:50626203	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324871	rs_767751622	3 SubmittersRCV000282325 RCV002059187
NM_000487.6(ARSA):c.918G>A (p.Thr306=)	SNV Germline	Chr22:50626215	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324877	rs_370250328	3 SubmittersRCV000306878 RCV001078705
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)	SNV Germline	Chr10:71819734	Conflicting classifications of pathogenicity	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Condition: not provided Inborn genetic diseases Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547470	rs_202125074	7 SubmittersRCV000349589 RCV000350842 RCV000389048 RCV002262951 RCV002520627 RCV001044241 RCV001833438
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)	SNV Germline	Chr10:71819850	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Combined PSAP deficiency Galactosylceramide beta-galactosidase deficiency Atypical Gaucher Disease Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Conflicting Classifications	CA5547494	rs_138328594	2 SubmittersRCV000264576 RCV000303307 RCV000304947 RCV000361976 RCV000973449 RCV001103919 RCV001103918
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)	SNV Germline	Chr10:71819537	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA5547413	rs_777227555	4 SubmittersRCV000259660 RCV000299749 RCV000356874 RCV000932186 RCV001272671 RCV003330636
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)	SNV Germline	Chr10:71819818	Conflicting classifications of pathogenicity	Gaucher disease due to saposin C deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547484	rs_140066253	4 SubmittersRCV000301263 RCV000335258 RCV000390963 RCV000390949 RCV001356155 RCV001828310
NM_002778.4(PSAP):c.798G>A (p.Ala266=)	SNV Germline	Chr10:71821987	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547598	rs_199672678	3 SubmittersRCV000270227 RCV000310085 RCV000313643 RCV000362418 RCV001833439
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)	SNV Germline	Chr10:71834379	Conflicting classifications of pathogenicity	Atypical Gaucher Disease Galactosylceramide beta-galactosidase deficiency Combined PSAP deficiency Metachromatic leukodystrophy Inborn genetic diseases Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547881	rs_571773332	3 SubmittersRCV000272506 RCV000274090 RCV000327586 RCV000386828 RCV004021479 RCV002522167
NM_000487.6(ARSA):c.225-5C>T	SNV Germline	Chr22:50627411	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10325086	rs_192013394	2 SubmittersRCV000331507
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)	SNV Germline	Chr22:50626859	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324952	rs_201251634	4 SubmittersRCV000301678
NM_000487.6(ARSA):c.1211-15T>C	SNV Germline	Chr22:50625479	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324770	rs_374150980	2 SubmittersRCV000393936
NM_000487.6(ARSA):c.369C>T (p.Ala123=)	SNV Germline	Chr22:50627262	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10653701	rs_886057657	2 SubmittersRCV000389729
NM_000487.6(ARSA):c.663C>T (p.Phe221=)	SNV Germline	Chr22:50626855	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA10324951	rs_754484249	3 SubmittersRCV000359843 RCV003950193
NM_000487.6(ARSA):c.1210+1G>T	SNV Germline	Chr22:50625578	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA16042034	rs_80338820	2 SubmittersRCV000411066
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)	SNV Germline	Chr22:50626992	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10324986	rs_762284875	3 SubmittersRCV000409359
NM_000487.6(ARSA):c.466-2A>G	SNV Germline	Chr22:50627054	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16042043	rs_1057517044	3 SubmittersRCV000409478
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)	SNV Germline	Chr22:50627210	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	No Assertion Criteria Provided	CA16042044	rs_1057516730	2 SubmittersRCV000410152
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)	SNV Germline	Chr22:50626154	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10324863	rs_148092995	7 SubmittersRCV000414752 RCV000984246 RCV002523904
NM_002778.4(PSAP):c.409C>G (p.Leu137Val)	SNV Germline	Chr10:71829044	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy Sphingolipid activator protein 1 deficiency Combined PSAP deficiency PSAP-related disorder	Criteria Provided Conflicting Classifications	CA5547774	rs_377027316	5 SubmittersRCV000484673 RCV001272680 RCV001084808 RCV001335064 RCV003902722
NM_000487.6(ARSA):c.466-7G>C	SNV Germline	Chr22:50627059	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA10325001	rs_6151414	8 SubmittersRCV000487951 RCV001083981 RCV003972814
NM_000487.6(ARSA):c.926A>T (p.Glu309Val)	SNV Germline	Chr22:50626207	Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412174579	rs_1085308016	3 SubmittersRCV000489590 RCV002527037
NM_000487.6(ARSA):c.1274A>G (p.His425Arg)	SNV Germline	Chr22:50625401	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412168978	rs_1135401757	3 SubmittersRCV000496135
NM_000487.6(ARSA):c.852T>A (p.Asn284Lys)	SNV Unknown	Chr22:50626593	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412175586	rs_1135401756	1 SubmittersRCV000496194
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)	SNV Germline	Chr22:50626844	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10324950	rs_527640350	5 SubmittersRCV000496179
NM_000487.6(ARSA):c.545C>G (p.Pro182Arg)	SNV Unknown	Chr22:50626973	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412177603	rs_1135401755	1 SubmittersRCV000496198
NM_000487.6(ARSA):c.229G>C (p.Ala77Pro)	SNV Unknown	Chr22:50627402	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412181963	rs_763880042	1 SubmittersRCV000496166
NM_000487.6(ARSA):c.98T>C (p.Leu33Pro)	SNV Unknown	Chr22:50627682	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412183183	rs_1135401754	1 SubmittersRCV000496199
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	SNV Germline	Chr22:50626196	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA325531338	rs_551472773	10 SubmittersRCV000501028 RCV000760416
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)	SNV Germline	Chr10:71828111	Conflicting classifications of pathogenicity	Condition: not provided Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy PSAP-related disorder	Criteria Provided Conflicting Classifications	CA5547714	rs_200319381	5 SubmittersRCV000514444 RCV001081218 RCV001272678 RCV003962415
NM_002778.4(PSAP):c.607C>T (p.Gln203Ter)	SNV Germline	Chr10:71828127	Pathogenic	Condition: not provided Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA377151530	rs_1554880848	4 SubmittersRCV000578629 RCV002529049 RCV005606676
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)	SNV Germline	Chr22:50626173	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412174356	rs_1375757476	4 SubmittersRCV000588032
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)	SNV Unknown	Chr22:50627386	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10325076	rs_769892461	1 SubmittersRCV000626198
NM_000487.6(ARSA):c.679T>C (p.Ser227Pro)	SNV Germline	Chr22:50626839	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176900	rs_1555900849	1 SubmittersRCV000631448
NM_000487.6(ARSA):c.1108-3C>G	SNV Germline	Chr22:50625684	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA325531271	rs_1001100248	4 SubmittersRCV000667567
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)	SNV Germline	Chr22:50626256	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412174968	rs_1555900678	3 SubmittersRCV000674946
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	SNV Germline	Chr22:50626052	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA412172524	rs_398123419	5 SubmittersRCV000671936 RCV002531300
NM_000487.6(ARSA):c.224+1G>A	SNV Germline	Chr22:50627555	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182074	rs_1555901108	2 SubmittersRCV000668533
NM_000487.6(ARSA):c.980-2A>C	SNV Unknown	Chr22:50626065	Likely pathogenic	Metachromatic leukodystrophy	No Assertion Criteria Provided	CA10324848	rs_769152137	2 SubmittersRCV000672005
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu)	SNV Germline	Chr22:50627374	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412181784	rs_74315458	2 SubmittersRCV000672928
NM_000487.6(ARSA):c.225-2A>G	SNV Germline	Chr22:50627408	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412182008	rs_1555901083	3 SubmittersRCV000674241
NM_000487.6(ARSA):c.465+2T>A	SNV Unknown	Chr22:50627164	Likely pathogenic	Metachromatic leukodystrophy	No Assertion Criteria Provided	CA412179890	rs_1555900989	1 SubmittersRCV000669056
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)	SNV Germline	Chr22:50627380	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10325074	rs_6151411	7 SubmittersRCV000672436 RCV005251164
NM_000487.6(ARSA):c.2T>C (p.Met1Thr)	SNV Unknown	Chr22:50627778	Likely pathogenic	Metachromatic leukodystrophy	No Assertion Criteria Provided	CA412183969	rs_1555901170	1 SubmittersRCV000668820
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)	SNV Germline	Chr22:50627182	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412180061	rs_199476375	3 SubmittersRCV000698866
NM_000487.6(ARSA):c.157C>T (p.Gln53Ter)	SNV Germline	Chr22:50627623	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182548	rs_1603445026	1 SubmittersRCV000807270
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)	SNV Germline	Chr22:50625188	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10324720	rs_201085386	4 SubmittersRCV000902745 RCV002269326
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser)	SNV Germline	Chr22:50625350	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10324747	rs_6151427	4 SubmittersRCV000901101 RCV002051904
NM_000487.6(ARSA):c.279C>T (p.Val93=)	SNV Germline	Chr22:50627352	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10325068	rs_756760904	3 SubmittersRCV001478188
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)	SNV Germline	Chr10:71819760	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547472	rs_573095617	3 SubmittersRCV000943827 RCV001107537 RCV001107536 RCV001107538 RCV001272673
NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter)	SNV Germline	Chr22:50625309	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412168178	rs_2082644196	1 SubmittersRCV001172255
NM_000487.6(ARSA):c.931G>C (p.Gly311Arg)	SNV Germline	Chr22:50626202	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174550	rs_74315459	1 SubmittersRCV001172253
NM_000487.6(ARSA):c.827C>A (p.Thr276Lys)	SNV Germline	Chr22:50626618	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412175847	rs_74315472	2 SubmittersRCV001172252
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)	SNV Germline	Chr22:50626733	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412176628	rs_751026400	5 SubmittersRCV001172251
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)	SNV Germline	Chr22:50627260	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412180773	rs_2082689435	2 SubmittersRCV001172249
NM_000487.6(ARSA):c.335T>A (p.Val112Asp)	SNV Germline	Chr22:50627296	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412181089	rs_2082690324	1 SubmittersRCV001172248
NM_000487.6(ARSA):c.179G>C (p.Arg60Pro)	SNV Germline	Chr22:50627601	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA412182401	rs_750005732	2 SubmittersRCV001172247 RCV001759675
NM_000487.6(ARSA):c.685-1G>A	SNV Germline	Chr22:50626761	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176796	rs_2082676596	1 SubmittersRCV001172250
NM_000487.6(ARSA):c.677C>A (p.Ala226Asp)	SNV Germline	Chr22:50626841	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176905	rs_74315468	1 SubmittersRCV000995698
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys)	SNV Germline	Chr10:71828089	Pathogenic/Likely pathogenic	Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy Combined PSAP deficiency Parkinson disease 24, autosomal dominant, susceptibility to Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Parkinson disease 24, autosomal dominant, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA5547708	rs_770171865	4 SubmittersRCV001063288 RCV001827403 RCV005047275 RCV005359836
NM_002778.4(PSAP):c.1A>G (p.Met1Val)	SNV Germline	Chr10:71851221	Pathogenic	Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy Parkinson disease 24, autosomal dominant, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA5547949	rs_121918106	4 SubmittersRCV001066448 RCV001833645 RCV004820867
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)	SNV Germline	Chr22:50625182	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10324719	rs_6151428	5 SubmittersRCV001060881 RCV001759817
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)	SNV Germline	Chr22:50626926	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10324971	rs_144393886	5 SubmittersRCV001059607 RCV002553864
NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)	SNV Germline	Chr22:50627189	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412180119	rs_1188592346	2 SubmittersRCV001062955
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)	SNV Germline	Chr22:50627198	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA412180174	rs_199476373	4 SubmittersRCV001042235 RCV003898047
NM_000487.6(ARSA):c.855-1G>A	SNV Germline	Chr22:50626279	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10324892	rs_754898479	3 SubmittersRCV001042683
NM_000487.6(ARSA):c.684+1G>A	SNV Germline	Chr22:50626833	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10324947	rs_146371968	9 SubmittersRCV001090367 RCV001174677
NM_000487.6(ARSA):c.*15G>A	SNV Germline	Chr22:50625130	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10324710	rs_377187248	2 SubmittersRCV001146320 RCV001561920
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)	SNV Germline	Chr22:50627197	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10325033	rs_551548107	3 SubmittersRCV001144538
NM_000487.6(ARSA):c.1210+13C>T	SNV Germline	Chr22:50625566	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324797	rs_6151426	2 SubmittersRCV001149124
NM_000487.6(ARSA):c.225-4G>A	SNV Germline	Chr22:50627410	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10325085	rs_372937480	3 SubmittersRCV001146460 RCV005268917
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)	SNV Germline	Chr22:50626208	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10324873	rs_199476360	2 SubmittersRCV001193048
NM_000487.6(ARSA):c.854+1G>A	SNV Germline	Chr22:50626590	Pathogenic	Metachromatic leukodystrophy METACHROMATIC LEUKODYSTROPHY, SEVERE Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412175562	rs_886041911	4 SubmittersRCV001192373 RCV002221160 RCV004590209
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)	SNV Germline	Chr22:50625228	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324725	rs_148352371	2 SubmittersRCV001211652
NM_000487.6(ARSA):c.1162G>T (p.Val388Phe)	SNV Germline	Chr22:50625627	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412170144	rs_1222719732	1 SubmittersRCV001231567
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)	SNV Germline	Chr22:50626228	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412174737	rs_74315484	2 SubmittersRCV001237276
NM_000487.6(ARSA):c.413C>A (p.Pro138His)	SNV Germline	Chr22:50627218	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412180394	rs_74315462	1 SubmittersRCV001248156
NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter)	SNV Germline	Chr22:50625297	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412168081	rs_973061258	1 SubmittersRCV001250463
NM_000487.6(ARSA):c.1200C>T (p.Phe400=)	SNV Germline	Chr22:50625589	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA515391473	rs_1175674325	2 SubmittersRCV001250462
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)	SNV Germline	Chr22:50625964	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Single Submitter	CA412171445	rs_2082658031	3 SubmittersRCV001250460 RCV001573988
NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro)	SNV Germline	Chr22:50626036	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA412172304	rs_2082660121	2 SubmittersRCV001250459 RCV005236733
NM_000487.6(ARSA):c.700C>T (p.Gln234Ter)	SNV Germline	Chr22:50626745	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176696	rs_2082676249	1 SubmittersRCV001250457
NM_000487.6(ARSA):c.413C>G (p.Pro138Arg)	SNV Germline	Chr22:50627218	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412180391	rs_74315462	3 SubmittersRCV001268142 RCV003607419
NM_000487.6(ARSA):c.378G>A (p.Trp126Ter)	SNV Germline	Chr22:50627253	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412180720	rs_2082689270	2 SubmittersRCV001268355 RCV005029852
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)	SNV Germline	Chr10:71819769	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Condition: not provided Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547474	rs_754680319	4 SubmittersRCV002537887 RCV003481049 RCV001280270 RCV003355353
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)	SNV Germline	Chr10:71819830	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA5547486	rs_765744298	3 SubmittersRCV001280271 RCV001449850 RCV002541741
NM_000487.6(ARSA):c.581C>A (p.Pro194His)	SNV Germline	Chr22:50626937	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA325531514	rs_769492279	3 SubmittersRCV001290419
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)	SNV Germline	Chr22:50626911	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412177333	rs_2082680103	4 SubmittersRCV001290420
NM_000487.6(ARSA):c.979+8C>T	SNV Germline	Chr22:50626146	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324861	rs_746862304	2 SubmittersRCV001329926
NM_000487.6(ARSA):c.385G>A (p.Gly129Arg)	SNV Germline	Chr22:50627246	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10325043	rs_753872402	2 SubmittersRCV001345265
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp)	SNV Germline	Chr22:50626232	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA412174765	rs_794727704	4 SubmittersRCV001353058 RCV002547576
NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)	SNV Germline	Chr22:50626744	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA10324936	rs_748583298	4 SubmittersRCV001379881 RCV004526847
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)	SNV Germline	Chr22:50627293	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10325050	rs_777431148	6 SubmittersRCV001376979 RCV001574994
NM_000487.6(ARSA):c.160C>G (p.Leu54Val)	SNV Germline	Chr22:50627620	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182520	rs_1410632651	2 SubmittersRCV001377180
NM_000487.6(ARSA):c.1107+1G>T	SNV Germline	Chr22:50625935	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412171081	rs_2146718906	1 SubmittersRCV001382884
NM_000487.6(ARSA):c.685-2A>G	SNV Germline	Chr22:50626762	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412176804	rs_1490196552	3 SubmittersRCV001380268 RCV003324831
NM_000487.6(ARSA):c.891C>T (p.Ser297=)	SNV Germline	Chr22:50626242	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324885	rs_770536697	2 SubmittersRCV001498448
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)	SNV Germline	Chr22:50627602	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA325531670	rs_867538940	4 SubmittersRCV001557720 RCV003388025
NM_000487.6(ARSA):c.276C>T (p.Gly92=)	SNV Germline	Chr22:50627355	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA515391587	rs_978006787	2 SubmittersRCV001559153
NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)	SNV Germline	Chr22:50627030	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412177976	rs_1430695346	1 SubmittersRCV001580606
NM_000487.6(ARSA):c.633G>A (p.Met211Ile)	SNV Germline	Chr22:50626885	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324961	rs_773059458	3 SubmittersRCV001620225 RCV001866259
NM_000487.6(ARSA):c.1187A>C (p.Tyr396Ser)	SNV Germline	Chr22:50625602	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412169942	rs_2146717660	1 SubmittersRCV001733823
NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly)	SNV Germline	Chr22:50625437	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412169360	rs_1383481612	2 SubmittersRCV001775249
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)	SNV Germline	Chr22:50627387	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA412181884	rs_1313802305	4 SubmittersRCV001785963 RCV003319478
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)	SNV Germline	Chr22:50626603	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA325531453	rs_966673017	5 SubmittersRCV001785964 RCV005237987
NM_000487.6(ARSA):c.746T>G (p.Phe249Cys)	SNV Germline	Chr22:50626699	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412176411	rs_199476384	2 SubmittersRCV001806304
NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys)	SNV Germline	Chr22:50625399	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412168961	rs_2146716641	1 SubmittersRCV001824209
NM_000487.6(ARSA):c.56T>C (p.Val19Ala)	SNV Germline	Chr22:50627724	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA412183565	rs_1235007867	3 SubmittersRCV001919225 RCV005482998
NM_000487.6(ARSA):c.700C>G (p.Gln234Glu)	SNV Germline	Chr22:50626745	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176698	rs_2082676249	1 SubmittersRCV001991704
NM_000487.6(ARSA):c.109G>C (p.Asp37His)	SNV Germline	Chr22:50627671	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412183080	rs_2146728318	1 SubmittersRCV002032009
NM_000487.6(ARSA):c.892G>A (p.Gly298Ser)	SNV Germline	Chr22:50626241	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324884	rs_748876604	2 SubmittersRCV001961325
NM_000487.6(ARSA):c.448C>T (p.Pro150Ser)	SNV Germline	Chr22:50627183	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412180070	rs_1569081077	1 SubmittersRCV001917446
NM_000487.6(ARSA):c.370G>T (p.Gly124Cys)	SNV Germline	Chr22:50627261	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA325531581	rs_74315461	2 SubmittersRCV002016655
NM_000487.6(ARSA):c.605G>A (p.Arg202His)	SNV Germline	Chr22:50626913	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10324968	rs_201794808	7 SubmittersRCV001967480 RCV002225950 RCV003167333
NM_000487.6(ARSA):c.1211-2A>G	SNV Germline	Chr22:50625466	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA325531231	rs_74925710	2 SubmittersRCV002051131
NM_000487.6(ARSA):c.1282C>G (p.Pro428Ala)	SNV Germline	Chr22:50625393	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412168904	rs_2146716603	1 SubmittersRCV001995345
NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)	SNV Germline	Chr22:50627361	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412181697	rs_780399417	1 SubmittersRCV001916815
NM_000487.6(ARSA):c.392G>A (p.Gly131Glu)	SNV Germline	Chr22:50627239	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA412180582	rs_1336260427	2 SubmittersRCV001905445 RCV004728870
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter)	SNV Germline	Chr22:50626721	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412176543	rs_757891932	2 SubmittersRCV001929090
NM_000487.6(ARSA):c.771T>A (p.Asp257Glu)	SNV Germline	Chr22:50626674	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10324925	rs_563053401	3 SubmittersRCV002009219
NM_000487.6(ARSA):c.892G>T (p.Gly298Cys)	SNV Germline	Chr22:50626241	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412174821	rs_748876604	2 SubmittersRCV002004843
NM_000487.6(ARSA):c.224+1G>T	SNV Germline	Chr22:50627555	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182068	rs_1555901108	1 SubmittersRCV002011795
NM_000487.6(ARSA):c.224+2T>A	SNV Germline	Chr22:50627554	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182064	rs_2146727518	1 SubmittersRCV002031058
NM_000487.6(ARSA):c.581C>G (p.Pro194Arg)	SNV Germline	Chr22:50626937	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412177449	rs_769492279	3 SubmittersRCV001920712
NM_000487.6(ARSA):c.460G>A (p.Asp154Asn)	SNV Germline	Chr22:50627171	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412179968	rs_199476365	2 SubmittersRCV001920743
NM_000487.6(ARSA):c.1107+1G>A	SNV Germline	Chr22:50625935	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412171105	rs_2146718906	2 SubmittersRCV001941577
NM_000487.6(ARSA):c.1197C>G (p.His399Gln)	SNV Germline	Chr22:50625592	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324799	rs_752206330	2 SubmittersRCV002025304
NM_000487.6(ARSA):c.662T>C (p.Phe221Ser)	SNV Germline	Chr22:50626856	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412177028	rs_2146723107	1 SubmittersRCV001888514
NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter)	SNV Germline	Chr22:50625382	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412168835	rs_1209071029	1 SubmittersRCV001953645
NM_000487.6(ARSA):c.826A>T (p.Thr276Ser)	SNV Germline	Chr22:50626619	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324916	rs_140966324	2 SubmittersRCV002029692
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly)	SNV Germline	Chr22:50626196	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324870	rs_551472773	3 SubmittersRCV001980760
NM_000487.6(ARSA):c.731C>A (p.Ser244Ter)	SNV Germline	Chr22:50626714	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176509	rs_1394861740	1 SubmittersRCV001895276
NM_000487.6(ARSA):c.802G>A (p.Gly268Arg)	SNV Germline	Chr22:50626643	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA412176099	rs_1404723529	3 SubmittersRCV001914136 RCV004044053
NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg)	SNV Germline	Chr22:50625207	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy ARSA-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10324722	rs_755974448	3 SubmittersRCV001916305 RCV003395277 RCV005601833
NM_000487.6(ARSA):c.1108-1G>C	SNV Germline	Chr22:50625682	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412170860	rs_2146718041	1 SubmittersRCV002222915
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro)	SNV Germline	Chr22:50627383	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA412181861	rs_1190061000	4 SubmittersRCV002247162 RCV003500692 RCV004526919
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)	SNV Germline	Chr22:50625396	Conflicting classifications of pathogenicity	not specified Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA412168917	rs_74315485	2 SubmittersRCV003235764 RCV003064665
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)	SNV Germline	Chr22:50626226	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174715	rs_1276584787	2 SubmittersRCV003064666
NM_000487.6(ARSA):c.436T>C (p.Phe146Leu)	SNV Germline	Chr22:50627195	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10325032	rs_747725187	2 SubmittersRCV003041420
NM_000487.6(ARSA):c.412C>A (p.Pro138Thr)	SNV Germline	Chr22:50627219	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10325040	rs_60504011	2 SubmittersRCV003041421
NM_000487.6(ARSA):c.765G>C (p.Glu255Asp)	SNV Germline	Chr22:50626680	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA325531461	rs_372250391	1 SubmittersRCV003052681
NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr)	SNV Germline	Chr22:50625452	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412169510	rs_779702635	2 SubmittersRCV003067265
NM_000487.6(ARSA):c.116G>A (p.Gly39Asp)	SNV Germline	Chr22:50627664	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10325113	rs_781625939	3 SubmittersRCV003074893
NM_000487.6(ARSA):c.427T>C (p.Phe143Leu)	SNV Germline	Chr22:50627204	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412180220	rs_2518333422	1 SubmittersRCV003061639
NM_000487.6(ARSA):c.301G>T (p.Gly101Cys)	SNV Germline	Chr22:50627330	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA325531597	rs_1013216151	1 SubmittersRCV002620764
NM_000487.6(ARSA):c.926A>G (p.Glu309Gly)	SNV Germline	Chr22:50626207	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174585	rs_1085308016	1 SubmittersRCV002659128
NM_000487.6(ARSA):c.460G>C (p.Asp154His)	SNV Germline	Chr22:50627171	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA10325030	rs_199476365	3 SubmittersRCV002627640 RCV005626678
NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)	SNV Germline	Chr22:50627386	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412181874	rs_769892461	1 SubmittersRCV002716076
NM_000487.6(ARSA):c.970A>T (p.Ile324Phe)	SNV Germline	Chr22:50626163	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174271	rs_557527090	1 SubmittersRCV002776250
NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys)	SNV Germline	Chr22:50627658	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA325531682	rs_965484858	2 SubmittersRCV002756041
NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)	SNV Germline	Chr22:50625276	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA412167900	rs_2518321662	3 SubmittersRCV002819939 RCV003418614
NM_000487.6(ARSA):c.251C>G (p.Pro84Arg)	SNV Germline	Chr22:50627380	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412181831	rs_6151411	1 SubmittersRCV002801671
NM_000487.6(ARSA):c.584G>A (p.Trp195Ter)	SNV Germline	Chr22:50626934	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412177438	rs_1344892313	1 SubmittersRCV002848202
NM_000487.6(ARSA):c.1196A>G (p.His399Arg)	SNV Germline	Chr22:50625593	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412169832	rs_1603444881	1 SubmittersRCV002876808
NM_000487.6(ARSA):c.680C>T (p.Ser227Phe)	SNV Germline	Chr22:50626838	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176879	rs_138468395	1 SubmittersRCV002982621
NM_000487.6(ARSA):c.574C>T (p.Gln192Ter)	SNV Germline	Chr22:50626944	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412177474	rs_1238459356	1 SubmittersRCV002996828
NM_000487.6(ARSA):c.770A>T (p.Asp257Val)	SNV Germline	Chr22:50626675	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176245	rs_2518329600	1 SubmittersRCV003054290
NM_000487.6(ARSA):c.386G>A (p.Gly129Glu)	SNV Germline	Chr22:50627245	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412180652	rs_2518333795	1 SubmittersRCV003047254
NM_000487.6(ARSA):c.620C>A (p.Ala207Asp)	SNV Germline	Chr22:50626898	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324965	rs_759098239	2 SubmittersRCV003154875
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)	SNV Germline	Chr22:50627257	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412180758	rs_2518333855	1 SubmittersRCV003318425
NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)	SNV Germline	Chr22:50626708	Conflicting classifications of pathogenicity	not specified Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA412176470	rs_199476366	2 SubmittersRCV003331831 RCV003777393
NM_000487.6(ARSA):c.931G>T (p.Gly311Cys)	SNV Germline	Chr22:50626202	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174553	rs_74315459	1 SubmittersRCV003501561
NM_000487.6(ARSA):c.869G>C (p.Arg290Pro)	SNV Germline	Chr22:50626264	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412175040	rs_199476355	1 SubmittersRCV003501659
NM_000487.6(ARSA):c.1223G>A (p.Ser408Asn)	SNV Germline	Chr22:50625452	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324762	rs_779702635	2 SubmittersRCV003501565
NM_000487.6(ARSA):c.1107+1G>C	SNV Germline	Chr22:50625935	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412171099	rs_2146718906	1 SubmittersRCV003501862
NM_000487.6(ARSA):c.629T>C (p.Leu210Pro)	SNV Germline	Chr22:50626889	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412177219	rs_762593908	1 SubmittersRCV003501755
NM_000487.6(ARSA):c.136T>C (p.Ser46Pro)	SNV Germline	Chr22:50627644	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA325531680	rs_867061766	2 SubmittersRCV003501756
NM_000487.6(ARSA):c.764A>C (p.Glu255Ala)	SNV Germline	Chr22:50626681	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176286	rs_2518329660	1 SubmittersRCV003502002
NM_000487.6(ARSA):c.992A>G (p.Glu331Gly)	SNV Germline	Chr22:50626051	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412172514	rs_2518326252	1 SubmittersRCV003500315
NM_000487.6(ARSA):c.868C>G (p.Arg290Gly)	SNV Germline	Chr22:50626265	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412175055	rs_74315473	1 SubmittersRCV003500470
NM_000487.6(ARSA):c.928G>A (p.Gly310Ser)	SNV Germline	Chr22:50626205	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174565	rs_2518326996	1 SubmittersRCV003500207
NM_000487.6(ARSA):c.1199T>C (p.Phe400Ser)	SNV Germline	Chr22:50625590	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412169808	rs_2518323495	1 SubmittersRCV003500383
NM_000487.6(ARSA):c.676G>T (p.Ala226Ser)	SNV Germline	Chr22:50626842	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA325531479	rs_892043822	2 SubmittersRCV003607621 RCV005620483
NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln)	SNV Germline	Chr22:50625653	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324808	rs_74315478	2 SubmittersRCV003607606
NM_000487.6(ARSA):c.475C>T (p.Gln159Ter)	SNV Germline	Chr22:50627043	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324999	rs_760271887	1 SubmittersRCV003607710
NM_000487.6(ARSA):c.580C>T (p.Pro194Ser)	SNV Germline	Chr22:50626938	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412177451	rs_777554660	1 SubmittersRCV003607708
NM_000487.6(ARSA):c.916A>G (p.Thr306Ala)	SNV Germline	Chr22:50626217	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174667	rs_2518327103	1 SubmittersRCV003607724
NM_000487.6(ARSA):c.928G>T (p.Gly310Cys)	SNV Germline	Chr22:50626205	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174562	rs_2518326996	1 SubmittersRCV003607745
NM_000487.6(ARSA):c.899T>G (p.Leu300Trp)	SNV Germline	Chr22:50626234	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174773	rs_199476389	1 SubmittersRCV003608019
NM_000487.6(ARSA):c.771T>G (p.Asp257Glu)	SNV Germline	Chr22:50626674	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176240	rs_563053401	1 SubmittersRCV003608014
NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter)	SNV Germline	Chr22:50627585	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182264	rs_764737103	1 SubmittersRCV003607932
NM_000487.6(ARSA):c.225-1G>C	SNV Germline	Chr22:50627407	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182001	rs_2146726825	1 SubmittersRCV003608299
NM_000487.6(ARSA):c.135C>G (p.Ser45Arg)	SNV Germline	Chr22:50627645	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182777	rs_375493957	1 SubmittersRCV003608239
NM_000487.6(ARSA):c.908G>T (p.Gly303Val)	SNV Germline	Chr22:50626225	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412174706	rs_1421448666	1 SubmittersRCV003608337
NM_000487.6(ARSA):c.1282C>T (p.Pro428Ser)	SNV Germline	Chr22:50625393	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412168900	rs_2146716603	1 SubmittersRCV003608351
NM_000487.6(ARSA):c.412C>G (p.Pro138Ala)	SNV Germline	Chr22:50627219	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA325531576	rs_60504011	1 SubmittersRCV003608448
NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe)	SNV Germline	Chr22:50625387	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324753	rs_763190974	2 SubmittersRCV003608382
NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly)	SNV Germline	Chr22:50625615	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324803	rs_74315480	2 SubmittersRCV003608418
NM_000487.6(ARSA):c.958T>G (p.Trp320Gly)	SNV Germline	Chr22:50626175	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324868	rs_748753862	2 SubmittersRCV003608378
NM_000487.6(ARSA):c.256C>G (p.Arg86Gly)	SNV Germline	Chr22:50627375	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412181794	rs_199476352	1 SubmittersRCV003608531
NM_000487.6(ARSA):c.93C>G (p.Asp31Glu)	SNV Germline	Chr22:50627687	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10325117	rs_749426428	1 SubmittersRCV003608621
NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)	SNV Germline	Chr22:50627004	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324988	rs_74315271	2 SubmittersRCV003607134
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)	SNV Germline	Chr7:143331243	Likely pathogenic	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA369641786	rs_2487058978	3 SubmittersRCV003782655 RCV004527008 RCV004542250
NM_000487.6(ARSA):c.863C>A (p.Thr288Asn)	SNV Germline	Chr22:50626270	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412175113	rs_1391709910	2 SubmittersRCV003817569
NM_000487.6(ARSA):c.133A>G (p.Ser45Gly)	SNV Germline	Chr22:50627647	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412182794	rs_2518336818	1 SubmittersRCV003847516
NM_000487.6(ARSA):c.769G>A (p.Asp257Asn)	SNV Germline	Chr22:50626676	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10324926	rs_80338819	2 SubmittersRCV003852078
NM_000487.6(ARSA):c.809T>C (p.Leu270Pro)	SNV Germline	Chr22:50626636	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176042	rs_2518329356	1 SubmittersRCV004555147
NM_000487.6(ARSA):c.607T>A (p.Tyr203Asn)	SNV Germline	Chr22:50626911	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2082680103	1 SubmittersRCV004586418
NM_000487.6(ARSA):c.578C>G (p.Pro193Arg)	SNV Germline	Chr22:50626940	Conflicting classifications of pathogenicity	not specified Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV004766648 RCV005104965
NM_000487.6(ARSA):c.960G>T (p.Trp320Cys)	SNV Germline	Chr22:50626173	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005030932
NM_000487.6(ARSA):c.849C>G (p.Asp283Glu)	SNV Germline	Chr22:50626596	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005087707
NM_000487.6(ARSA):c.1470C>G (p.Cys490Trp)	SNV Germline	Chr22:50625205	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005107231
NM_000487.6(ARSA):c.629T>G (p.Leu210Arg)	SNV Germline	Chr22:50626889	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005107233
NM_000487.6(ARSA):c.544C>A (p.Pro182Thr)	SNV Germline	Chr22:50626974	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005107234
NM_000487.6(ARSA):c.855-1G>T	SNV Germline	Chr22:50626279	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005122158
NM_000487.6(ARSA):c.893G>T (p.Gly298Val)	SNV Germline	Chr22:50626240	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005179331
NM_000487.6(ARSA):c.1159G>T (p.Gly387Trp)	SNV Germline	Chr22:50625630	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005254232
NM_000487.6(ARSA):c.959G>A (p.Trp320Ter)	SNV Germline	Chr22:50626174	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005407509
NM_000487.6(ARSA):c.1150G>C (p.Glu384Gln)	SNV Germline	Chr22:50625639	Likely pathogenic	Metachromatic leukodystrophy	No Assertion Criteria Provided			1 SubmittersRCV005608079
NM_000487.6(ARSA):c.979+2T>C	SNV Germline	Chr22:50626152	Pathogenic	Metachromatic leukodystrophy	No Assertion Criteria Provided			1 SubmittersRCV005608026

NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)

SNV
Germline

Chr5:78781974

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, type vi, severe
Mucopolysaccharidosis type 6
Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA114603

rs_118203941

8 SubmittersRCV000000928 RCV000179701 RCV000723435 RCV000779751

NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)

SNV
Germline

Chr5:78964477

Pathogenic

Mucopolysaccharidosis type 6
Condition: not provided
Metachromatic leukodystrophy
ARSB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114609

rs_118203943

16 SubmittersRCV000000933 RCV000078003 RCV000779747 RCV003904792

NM_000487.6(ARSA):c.465+1G>A

SNV
Germline

Chr22:50627165

Pathogenic

Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy
Neurodevelopmental disorder
Inborn genetic diseases
See cases
ARSA-related disorder
Condition: not provided
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA215122

rs_80338815

42 SubmittersRCV000003192 RCV000003194 RCV000020319 RCV001778645 RCV001267384 RCV002251862 RCV003934795 RCV000335617 RCV001251910

NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)

SNV
Germline

Chr22:50625392

Pathogenic

Metachromatic leukodystrophy, juvenile type

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy
Condition: not provided
Intellectual disability
ARSA-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA115956

rs_28940893

29 SubmittersRCV000003195 RCV000003196 RCV000003197 RCV000020314 RCV000392246 RCV001251909 RCV004755702 RCV004797751

NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)

SNV
Germline

Chr22:50627329

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115958

rs_74315455

9 SubmittersRCV000003198 RCV000020318 RCV000724149

NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)

SNV
Germline

Chr22:50627338

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115960

rs_74315456

16 SubmittersRCV000003199 RCV000020317 RCV000723374

NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)

SNV
Germline

Chr22:50626976

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA115962

rs_74315457

27 SubmittersRCV000003202 RCV000003203 RCV000020320 RCV000657846 RCV001267385

NM_000487.6(ARSA):c.1210+1G>A

SNV
Germline

Chr22:50625578

Pathogenic

Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115964

rs_80338820

9 SubmittersRCV000003204 RCV000020312 RCV000723835

NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)

SNV
Germline

Chr22:50626202

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy
PSEUDOARYLSULFATASE A DEFICIENCY
Abnormality of the nervous system
Condition: not provided

Criteria Provided
Conflicting Classifications

CA115967

rs_74315459

14 SubmittersRCV000003206 RCV000666302 RCV000714802 RCV001813940 RCV002286693

NM_000487.6(ARSA):c.263G>A (p.Gly88Asp)

SNV
Germline

Chr22:50627368

Pathogenic

METACHROMATIC LEUKODYSTROPHY, SEVERE
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA115969

rs_74315460

2 SubmittersRCV000003207 RCV001353057

NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)

SNV
Germline

Chr22:50627261

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided
Inborn genetic diseases
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA220987

rs_74315461

9 SubmittersRCV000003209 RCV000078945 RCV000623394 RCV003415633

NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)

SNV
Germline

Chr22:50627218

Pathogenic

METACHROMATIC LEUKODYSTROPHY, SEVERE
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115977

rs_74315462

5 SubmittersRCV000003210 RCV000675081

NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)

SNV
Germline

Chr22:50627051

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278026

rs_74315463

6 SubmittersRCV000003212

NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)

SNV
Germline

Chr22:50627007

Conflicting classifications of pathogenicity

ARYLSULFATASE A PSEUDODEFICIENCY
Metachromatic leukodystrophy
Intellectual disability
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA115981

rs_74315466

9 SubmittersRCV000003215 RCV000540770 RCV001251908 RCV002265546 RCV003480017

NM_000487.6(ARSA):c.641C>T (p.Ala214Val)

SNV
Germline

Chr22:50626877

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340036

rs_74315467

11 SubmittersRCV000003216 RCV000723836

NM_000487.6(ARSA):c.677C>T (p.Ala226Val)

SNV
Germline

Chr22:50626841

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278030

rs_74315468

6 SubmittersRCV000003217 RCV000343115

NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)

SNV
Germline

Chr22:50626709

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Metachromatic leukodystrophy, juvenile type

Criteria Provided
Multiple Submitters
No Conflicts

CA278034

rs_74315470

8 SubmittersRCV000003219 RCV003993733

NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)

SNV
Germline

Chr22:50626706

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
METACHROMATIC LEUKODYSTROPHY, SEVERE
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115983

rs_74315471

12 SubmittersRCV000020321 RCV000003220 RCV000723992

NM_000487.6(ARSA):c.827C>T (p.Thr276Met)

SNV
Germline

Chr22:50626618

Pathogenic

METACHROMATIC LEUKODYSTROPHY, SEVERE
Metachromatic leukodystrophy
Condition: not provided
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115985

rs_74315472

12 SubmittersRCV000003221 RCV000169246 RCV000991546 RCV003904799

NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr22:50626265

Pathogenic

Metachromatic leukodystrophy
Spastic ataxia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278036

rs_74315473

7 SubmittersRCV000003223 RCV001642197 RCV004819990

NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)

SNV
Germline

Chr22:50626243

Pathogenic

METACHROMATIC LEUKODYSTROPHY, SEVERE
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA115987

rs_74315474

3 SubmittersRCV000003224 RCV000492011

NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)

SNV
Germline

Chr22:50626033

Pathogenic

METACHROMATIC LEUKODYSTROPHY, SEVERE
Metachromatic leukodystrophy
Condition: not provided
Leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115989

rs_74315475

14 SubmittersRCV000003226 RCV000169024 RCV000413321 RCV000414806

NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)

SNV
Germline

Chr22:50625675

Pathogenic

METACHROMATIC LEUKODYSTROPHY, SEVERE
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115991

rs_74315476

12 SubmittersRCV000003227 RCV000078933 RCV000723522

NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)

SNV
Germline

Chr22:50625674

Pathogenic/Likely pathogenic

METACHROMATIC LEUKODYSTROPHY, MILD
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115993

rs_74315477

9 SubmittersRCV000003228 RCV000544790

NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)

SNV
Germline

Chr22:50625653

Pathogenic

ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115995

rs_74315478

4 SubmittersRCV000003229 RCV002512051 RCV003500499

NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)

SNV
Germline

Chr22:50625639

Pathogenic/Likely pathogenic

ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115997

rs_74315479

10 SubmittersRCV000003230 RCV000078936 RCV000723624

NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)

SNV
Germline

Chr22:50625615

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278038

rs_74315480

11 SubmittersRCV000003231 RCV000723375

NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)

SNV
Germline

Chr22:50625443

Pathogenic/Likely pathogenic

METACHROMATIC LEUKODYSTROPHY, MILD
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115999

rs_74315481

5 SubmittersRCV000003233 RCV000020313

NM_000487.6(ARSA):c.410T>C (p.Leu137Pro)

SNV
Germline

Chr22:50627221

Pathogenic

Metachromatic leukodystrophy, adult type

No Assertion Criteria Provided

CA116003

rs_121434215

1 SubmittersRCV000003235

NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)

SNV
Germline

Chr22:50626271

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA116005

rs_28940894

6 SubmittersRCV000003236 RCV000795605 RCV004755703

NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)

SNV
Germline

Chr22:50626682

Pathogenic

Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116007

rs_74315483

8 SubmittersRCV000003237 RCV000169048 RCV000364541

NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile)

SNV
Germline

Chr22:50625446

Likely pathogenic

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA116009

rs_28940895

3 SubmittersRCV000003238 RCV001376978

NM_000487.6(ARSA):c.905G>T (p.Cys302Phe)

SNV
Germline

Chr22:50626228

Pathogenic

Metachromatic leukodystrophy, late infantile form
Condition: not provided

No Assertion Criteria Provided

CA116011

rs_74315484

2 SubmittersRCV000003239 RCV000058989

NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr)

SNV
Germline

Chr22:50625396

Pathogenic

Metachromatic leukodystrophy, juvenile type

No Assertion Criteria Provided

CA116013

rs_74315485

1 SubmittersRCV000003240

NM_002778.4(PSAP):c.777+1915C>A

SNV
Germline

Chr10:71823922

Likely pathogenic

Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA594309265

rs_759960679

2 SubmittersRCV000014290 RCV005237377

NM_002778.4(PSAP):c.643A>C (p.Asn215His)

SNV
Germline

Chr10:71828091

Pathogenic/Likely pathogenic

Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
PSAP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA123063

rs_121918107

5 SubmittersRCV000014296 RCV005606634 RCV003398506

NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)

SNV
Germline

Chr10:71819860

Likely pathogenic

Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA123069

rs_121918110

2 SubmittersRCV000014301 RCV003317034

NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)

SNV
Germline

Chr22:50627374

Pathogenic

METACHROMATIC LEUKODYSTROPHY, LATE-ONSET
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115965

rs_74315458

16 SubmittersRCV000003205 RCV000020316 RCV000723563

NM_000487.6(ARSA):c.769G>C (p.Asp257His)

SNV
Germline

Chr22:50626676

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341708

rs_80338819

11 SubmittersRCV000020322 RCV000255092

NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)

SNV
Germline

Chr22:50625633

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA218986

rs_199476370

8 SubmittersRCV000058945 RCV001329307 RCV003387751

NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)

SNV
Germline

Chr22:50625614

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA218988

rs_199476391

7 SubmittersRCV000058946 RCV000150058

NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)

SNV
Germline

Chr22:50625594

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA218990

rs_199476376

5 SubmittersRCV000058947 RCV000672049

NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)

SNV
Germline

Chr22:50625386

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA218994

rs_199476392

6 SubmittersRCV000058949 RCV002514296

NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)

SNV
Germline

Chr22:50625383

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA218996

rs_199476380

4 SubmittersRCV000058950 RCV001854228

NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)

SNV
Germline

Chr22:50625204

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219000

rs_199476388

6 SubmittersRCV000058952 RCV000667096

NM_000487.6(ARSA):c.209T>C (p.Leu70Pro)

SNV
Germline

Chr22:50627571

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219004

rs_199476351

3 SubmittersRCV000058954 RCV003500500

NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)

SNV
Germline

Chr22:50627375

Pathogenic

Condition: not provided
Metachromatic leukodystrophy
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA219008

rs_199476352

6 SubmittersRCV000058956 RCV000409776 RCV001090098

NM_000487.6(ARSA):c.302G>T (p.Gly101Val)

SNV
Germline

Chr22:50627329

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219014

rs_74315455

5 SubmittersRCV000058960 RCV000803574

NM_000487.6(ARSA):c.412C>T (p.Pro138Ser)

SNV
Germline

Chr22:50627219

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219018

rs_60504011

4 SubmittersRCV000058962 RCV001854229

NM_000487.6(ARSA):c.418C>G (p.His140Asp)

SNV
Germline

Chr22:50627213

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219020

rs_199476358

6 SubmittersRCV000058963 RCV000667286

NM_000487.6(ARSA):c.433C>G (p.Arg145Gly)

SNV
Germline

Chr22:50627198

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219022

rs_199476373

3 SubmittersRCV000058964 RCV001242589

NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)

SNV
Germline

Chr22:50627182

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219024

rs_199476375

10 SubmittersRCV000058965 RCV000631449

NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr)

SNV
Germline

Chr22:50627171

Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219026

rs_199476365

2 SubmittersRCV000058966 RCV002513773

NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)

SNV
Germline

Chr22:50627048

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219030

rs_74315464

3 SubmittersRCV000058968 RCV000778670

NM_000487.6(ARSA):c.577C>A (p.Pro193Thr)

SNV
Germline

Chr22:50626941

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219040

rs_199476374

4 SubmittersRCV000058973 RCV004782039 RCV003500501

NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)

SNV
Germline

Chr22:50626910

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219044

rs_199476345

4 SubmittersRCV000058975 RCV000664907

NM_000487.6(ARSA):c.640G>C (p.Ala214Pro)

SNV
Germline

Chr22:50626878

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219046

rs_199476341

5 SubmittersRCV000058976 RCV001380269

NM_000487.6(ARSA):c.737G>A (p.Arg246His)

SNV
Germline

Chr22:50626708

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219052

rs_199476366

9 SubmittersRCV000058979 RCV000150061

NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)

SNV
Germline

Chr22:50626699

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219054

rs_199476384

5 SubmittersRCV000058980 RCV000524971

NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr)

SNV
Germline

Chr22:50626690

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219056

rs_199476367

2 SubmittersRCV000058981 RCV002247460

NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)

SNV
Germline

Chr22:50626598

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219058

rs_199476386

6 SubmittersRCV000058982 RCV000668155

NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)

SNV
Germline

Chr22:50626594

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219060

rs_199476342

6 SubmittersRCV000058983 RCV002283451

NM_000487.6(ARSA):c.869G>A (p.Arg290His)

SNV
Germline

Chr22:50626264

Pathogenic/Likely pathogenic

Condition: not provided
ARSA-related disorder
Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA219062

rs_199476355

13 SubmittersRCV000058984 RCV003905027 RCV000668693 RCV004019068

NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)

SNV
Germline

Chr22:50626250

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2

Criteria Provided
Multiple Submitters
No Conflicts

CA219064

rs_199476349

13 SubmittersRCV000058985 RCV000150060 RCV005208124

NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)

SNV
Germline

Chr22:50626249

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219066

rs_199476387

3 SubmittersRCV000058986 RCV001150625

NM_000487.6(ARSA):c.887G>A (p.Cys296Tyr)

SNV
Germline

Chr22:50626246

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219068

rs_199476347

4 SubmittersRCV000058987 RCV005089490

NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)

SNV
Germline

Chr22:50626234

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219070

rs_199476389

5 SubmittersRCV000058988 RCV001854230

NM_000487.6(ARSA):c.912G>C (p.Lys304Asn)

SNV
Germline

Chr22:50626221

Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

No Assertion Criteria Provided

CA219072

rs_199476343

2 SubmittersRCV000058990 RCV005614378

NM_000487.6(ARSA):c.917C>T (p.Thr306Met)

SNV
Germline

Chr22:50626216

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219074

rs_199476359

10 SubmittersRCV000058991 RCV000578460

NM_000487.6(ARSA):c.922T>C (p.Tyr308His)

SNV
Germline

Chr22:50626211

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219078

rs_199476379

3 SubmittersRCV000058993 RCV000670369

NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)

SNV
Germline

Chr22:50626208

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219080

rs_199476360

7 SubmittersRCV000058994 RCV001039188

NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)

SNV
Germline

Chr22:50626204

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA219082

rs_199476356

4 SubmittersRCV000058995 RCV000695949 RCV004799773

NM_000487.6(ARSA):c.929G>T (p.Gly310Val)

SNV
Germline

Chr22:50626204

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219084

rs_199476356

2 SubmittersRCV000058996 RCV000995697

NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)

SNV
Germline

Chr22:50626195

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219086

rs_199476382

9 SubmittersRCV000058997 RCV000984245

NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)

SNV
Germline

Chr22:50626191

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219088

rs_199476390

4 SubmittersRCV000058998 RCV001004415

NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)

SNV
Germline

Chr22:50626187

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA219090

rs_199476368

6 SubmittersRCV000058999 RCV000665708 RCV004586532

NM_000487.6(ARSA):c.1108-2A>G

SNV
Germline

Chr22:50625683

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278420

rs_398123411

8 SubmittersRCV000078932 RCV000482171

NM_000487.6(ARSA):c.1211-10C>T

SNV
Germline

Chr22:50625474

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA220986

rs_398123413

3 SubmittersRCV000078939 RCV001087723 RCV003935025

NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)

SNV
Germline

Chr22:50626057

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278425

rs_398123418

5 SubmittersRCV000078952 RCV000723561

NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)

SNV
Germline

Chr22:50626052

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278427

rs_398123419

4 SubmittersRCV000078953 RCV000723562

NM_000487.6(ARSA):c.465G>A (p.Gln155=)

SNV
Germline

Chr22:50627166

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA233477

rs_199476377

3 SubmittersRCV000152793 RCV001582624 RCV001850084

NM_000487.6(ARSA):c.979+1G>A

SNV
Germline

Chr22:50626153

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278479

rs_754722529

5 SubmittersRCV000169323 RCV003151752

NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)

SNV
Germline

Chr22:50626878

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA243175

rs_199476341

6 SubmittersRCV000177069 RCV002517708

NM_000487.6(ARSA):c.901C>G (p.Arg301Gly)

SNV
Germline

Chr22:50626232

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA245949

rs_794727704

3 SubmittersRCV000178780 RCV000691986

NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)

SNV
Germline

Chr22:50625228

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA247540

rs_148352371

7 SubmittersRCV000180165 RCV000388131 RCV003927699

NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)

SNV
Germline

Chr22:50627044

Pathogenic

Condition: not provided
Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10325000

rs_768028181

8 SubmittersRCV000254939 RCV000984244 RCV004755833

NM_000487.6(ARSA):c.854+1G>T

SNV
Germline

Chr22:50626590

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603518

rs_886041911

2 SubmittersRCV000263067 RCV001855074

NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)

SNV
Germline

Chr22:50627285

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603751

rs_761860059

12 SubmittersRCV000364716 RCV000984243

NM_000487.6(ARSA):c.930C>T (p.Gly310=)

SNV
Germline

Chr22:50626203

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324871

rs_767751622

3 SubmittersRCV000282325 RCV002059187

NM_000487.6(ARSA):c.918G>A (p.Thr306=)

SNV
Germline

Chr22:50626215

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324877

rs_370250328

3 SubmittersRCV000306878 RCV001078705

NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)

SNV
Germline

Chr10:71819734

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Condition: not provided
Inborn genetic diseases
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547470

rs_202125074

7 SubmittersRCV000349589 RCV000350842 RCV000389048 RCV002262951 RCV002520627 RCV001044241 RCV001833438

NM_002778.4(PSAP):c.1056C>T (p.Ser352=)

SNV
Germline

Chr10:71819850

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Combined PSAP deficiency
Galactosylceramide beta-galactosidase deficiency
Atypical Gaucher Disease
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency

Criteria Provided
Conflicting Classifications

CA5547494

rs_138328594

2 SubmittersRCV000264576 RCV000303307 RCV000304947 RCV000361976 RCV000973449 RCV001103919 RCV001103918

NM_002778.4(PSAP):c.1278C>T (p.Asn426=)

SNV
Germline

Chr10:71819537

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA5547413

rs_777227555

4 SubmittersRCV000259660 RCV000299749 RCV000356874 RCV000932186 RCV001272671 RCV003330636

NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)

SNV
Germline

Chr10:71819818

Conflicting classifications of pathogenicity

Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547484

rs_140066253

4 SubmittersRCV000301263 RCV000335258 RCV000390963 RCV000390949 RCV001356155 RCV001828310

NM_002778.4(PSAP):c.798G>A (p.Ala266=)

SNV
Germline

Chr10:71821987

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547598

rs_199672678

3 SubmittersRCV000270227 RCV000310085 RCV000313643 RCV000362418 RCV001833439

NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)

SNV
Germline

Chr10:71834379

Conflicting classifications of pathogenicity

Atypical Gaucher Disease
Galactosylceramide beta-galactosidase deficiency
Combined PSAP deficiency
Metachromatic leukodystrophy
Inborn genetic diseases
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

CA5547881

rs_571773332

3 SubmittersRCV000272506 RCV000274090 RCV000327586 RCV000386828 RCV004021479 RCV002522167

NM_000487.6(ARSA):c.225-5C>T

SNV
Germline

Chr22:50627411

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10325086

rs_192013394

2 SubmittersRCV000331507

NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)

SNV
Germline

Chr22:50626859

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324952

rs_201251634

4 SubmittersRCV000301678

NM_000487.6(ARSA):c.1211-15T>C

SNV
Germline

Chr22:50625479

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324770

rs_374150980

2 SubmittersRCV000393936

NM_000487.6(ARSA):c.369C>T (p.Ala123=)

SNV
Germline

Chr22:50627262

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10653701

rs_886057657

2 SubmittersRCV000389729

NM_000487.6(ARSA):c.663C>T (p.Phe221=)

SNV
Germline

Chr22:50626855

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA10324951

rs_754484249

3 SubmittersRCV000359843 RCV003950193

NM_000487.6(ARSA):c.1210+1G>T

SNV
Germline

Chr22:50625578

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA16042034

rs_80338820

2 SubmittersRCV000411066

NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr22:50626992

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10324986

rs_762284875

3 SubmittersRCV000409359

NM_000487.6(ARSA):c.466-2A>G

SNV
Germline

Chr22:50627054

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042043

rs_1057517044

3 SubmittersRCV000409478

NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr22:50627210

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

No Assertion Criteria Provided

CA16042044

rs_1057516730

2 SubmittersRCV000410152

NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)

SNV
Germline

Chr22:50626154

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10324863

rs_148092995

7 SubmittersRCV000414752 RCV000984246 RCV002523904

NM_002778.4(PSAP):c.409C>G (p.Leu137Val)

SNV
Germline

Chr10:71829044

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
PSAP-related disorder

Criteria Provided
Conflicting Classifications

CA5547774

rs_377027316

5 SubmittersRCV000484673 RCV001272680 RCV001084808 RCV001335064 RCV003902722

NM_000487.6(ARSA):c.466-7G>C

SNV
Germline

Chr22:50627059

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA10325001

rs_6151414

8 SubmittersRCV000487951 RCV001083981 RCV003972814

NM_000487.6(ARSA):c.926A>T (p.Glu309Val)

SNV
Germline

Chr22:50626207

Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412174579

rs_1085308016

3 SubmittersRCV000489590 RCV002527037

NM_000487.6(ARSA):c.1274A>G (p.His425Arg)

SNV
Germline

Chr22:50625401

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412168978

rs_1135401757

3 SubmittersRCV000496135

NM_000487.6(ARSA):c.852T>A (p.Asn284Lys)

SNV
Unknown

Chr22:50626593

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412175586

rs_1135401756

1 SubmittersRCV000496194

NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)

SNV
Germline

Chr22:50626844

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10324950

rs_527640350

5 SubmittersRCV000496179

NM_000487.6(ARSA):c.545C>G (p.Pro182Arg)

SNV
Unknown

Chr22:50626973

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412177603

rs_1135401755

1 SubmittersRCV000496198

NM_000487.6(ARSA):c.229G>C (p.Ala77Pro)

SNV
Unknown

Chr22:50627402

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412181963

rs_763880042

1 SubmittersRCV000496166

NM_000487.6(ARSA):c.98T>C (p.Leu33Pro)

SNV
Unknown

Chr22:50627682

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412183183

rs_1135401754

1 SubmittersRCV000496199

NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)

SNV
Germline

Chr22:50626196

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA325531338

rs_551472773

10 SubmittersRCV000501028 RCV000760416

NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)

SNV
Germline

Chr10:71828111

Conflicting classifications of pathogenicity

Condition: not provided
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
PSAP-related disorder

Criteria Provided
Conflicting Classifications

CA5547714

rs_200319381

5 SubmittersRCV000514444 RCV001081218 RCV001272678 RCV003962415

NM_002778.4(PSAP):c.607C>T (p.Gln203Ter)

SNV
Germline

Chr10:71828127

Pathogenic

Condition: not provided
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA377151530

rs_1554880848

4 SubmittersRCV000578629 RCV002529049 RCV005606676

NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)

SNV
Germline

Chr22:50626173

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412174356

rs_1375757476

4 SubmittersRCV000588032

NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)

SNV
Unknown

Chr22:50627386

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10325076

rs_769892461

1 SubmittersRCV000626198

NM_000487.6(ARSA):c.679T>C (p.Ser227Pro)

SNV
Germline

Chr22:50626839

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176900

rs_1555900849

1 SubmittersRCV000631448

NM_000487.6(ARSA):c.1108-3C>G

SNV
Germline

Chr22:50625684

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA325531271

rs_1001100248

4 SubmittersRCV000667567

NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)

SNV
Germline

Chr22:50626256

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412174968

rs_1555900678

3 SubmittersRCV000674946

NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)

SNV
Germline

Chr22:50626052

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA412172524

rs_398123419

5 SubmittersRCV000671936 RCV002531300

NM_000487.6(ARSA):c.224+1G>A

SNV
Germline

Chr22:50627555

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412182074

rs_1555901108

2 SubmittersRCV000668533

NM_000487.6(ARSA):c.980-2A>C

SNV
Unknown

Chr22:50626065

Likely pathogenic

Metachromatic leukodystrophy

No Assertion Criteria Provided

CA10324848

rs_769152137

2 SubmittersRCV000672005

NM_000487.6(ARSA):c.257G>T (p.Arg86Leu)

SNV
Germline

Chr22:50627374

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412181784

rs_74315458

2 SubmittersRCV000672928

NM_000487.6(ARSA):c.225-2A>G

SNV
Germline

Chr22:50627408

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412182008

rs_1555901083

3 SubmittersRCV000674241

NM_000487.6(ARSA):c.465+2T>A

SNV
Unknown

Chr22:50627164

Likely pathogenic

Metachromatic leukodystrophy

No Assertion Criteria Provided

CA412179890

rs_1555900989

1 SubmittersRCV000669056

NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)

SNV
Germline

Chr22:50627380

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10325074

rs_6151411

7 SubmittersRCV000672436 RCV005251164

NM_000487.6(ARSA):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr22:50627778

Likely pathogenic

Metachromatic leukodystrophy

No Assertion Criteria Provided

CA412183969

rs_1555901170

1 SubmittersRCV000668820

NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)

SNV
Germline

Chr22:50627182

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412180061

rs_199476375

3 SubmittersRCV000698866

NM_000487.6(ARSA):c.157C>T (p.Gln53Ter)

SNV
Germline

Chr22:50627623

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412182548

rs_1603445026

1 SubmittersRCV000807270

NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)

SNV
Germline

Chr22:50625188

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10324720

rs_201085386

4 SubmittersRCV000902745 RCV002269326

NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser)

SNV
Germline

Chr22:50625350

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10324747

rs_6151427

4 SubmittersRCV000901101 RCV002051904

NM_000487.6(ARSA):c.279C>T (p.Val93=)

SNV
Germline

Chr22:50627352

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10325068

rs_756760904

3 SubmittersRCV001478188

NM_002778.4(PSAP):c.1146C>T (p.Cys382=)

SNV
Germline

Chr10:71819760

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547472

rs_573095617

3 SubmittersRCV000943827 RCV001107537 RCV001107536 RCV001107538 RCV001272673

NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter)

SNV
Germline

Chr22:50625309

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412168178

rs_2082644196

1 SubmittersRCV001172255

NM_000487.6(ARSA):c.931G>C (p.Gly311Arg)

SNV
Germline

Chr22:50626202

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174550

rs_74315459

1 SubmittersRCV001172253

NM_000487.6(ARSA):c.827C>A (p.Thr276Lys)

SNV
Germline

Chr22:50626618

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412175847

rs_74315472

2 SubmittersRCV001172252

NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)

SNV
Germline

Chr22:50626733

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412176628

rs_751026400

5 SubmittersRCV001172251

NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)

SNV
Germline

Chr22:50627260

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412180773

rs_2082689435

2 SubmittersRCV001172249

NM_000487.6(ARSA):c.335T>A (p.Val112Asp)

SNV
Germline

Chr22:50627296

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412181089

rs_2082690324

1 SubmittersRCV001172248

NM_000487.6(ARSA):c.179G>C (p.Arg60Pro)

SNV
Germline

Chr22:50627601

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412182401

rs_750005732

2 SubmittersRCV001172247 RCV001759675

NM_000487.6(ARSA):c.685-1G>A

SNV
Germline

Chr22:50626761

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176796

rs_2082676596

1 SubmittersRCV001172250

NM_000487.6(ARSA):c.677C>A (p.Ala226Asp)

SNV
Germline

Chr22:50626841

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176905

rs_74315468

1 SubmittersRCV000995698

NM_002778.4(PSAP):c.645C>A (p.Asn215Lys)

SNV
Germline

Chr10:71828089

Pathogenic/Likely pathogenic

Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
Combined PSAP deficiency
Parkinson disease 24, autosomal dominant, susceptibility to
Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency
Gaucher disease due to saposin C deficiency
Parkinson disease 24, autosomal dominant, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA5547708

rs_770171865

4 SubmittersRCV001063288 RCV001827403 RCV005047275 RCV005359836

NM_002778.4(PSAP):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:71851221

Pathogenic

Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
Parkinson disease 24, autosomal dominant, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA5547949

rs_121918106

4 SubmittersRCV001066448 RCV001833645 RCV004820867

NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)

SNV
Germline

Chr22:50625182

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10324719

rs_6151428

5 SubmittersRCV001060881 RCV001759817

NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)

SNV
Germline

Chr22:50626926

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10324971

rs_144393886

5 SubmittersRCV001059607 RCV002553864

NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)

SNV
Germline

Chr22:50627189

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412180119

rs_1188592346

2 SubmittersRCV001062955

NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)

SNV
Germline

Chr22:50627198

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA412180174

rs_199476373

4 SubmittersRCV001042235 RCV003898047

NM_000487.6(ARSA):c.855-1G>A

SNV
Germline

Chr22:50626279

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10324892

rs_754898479

3 SubmittersRCV001042683

NM_000487.6(ARSA):c.684+1G>A

SNV
Germline

Chr22:50626833

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10324947

rs_146371968

9 SubmittersRCV001090367 RCV001174677

NM_000487.6(ARSA):c.*15G>A

SNV
Germline

Chr22:50625130

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10324710

rs_377187248

2 SubmittersRCV001146320 RCV001561920

NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)

SNV
Germline

Chr22:50627197

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10325033

rs_551548107

3 SubmittersRCV001144538

NM_000487.6(ARSA):c.1210+13C>T

SNV
Germline

Chr22:50625566

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324797

rs_6151426

2 SubmittersRCV001149124

NM_000487.6(ARSA):c.225-4G>A

SNV
Germline

Chr22:50627410

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10325085

rs_372937480

3 SubmittersRCV001146460 RCV005268917

NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)

SNV
Germline

Chr22:50626208

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10324873

rs_199476360

2 SubmittersRCV001193048

NM_000487.6(ARSA):c.854+1G>A

SNV
Germline

Chr22:50626590

Pathogenic

Metachromatic leukodystrophy
METACHROMATIC LEUKODYSTROPHY, SEVERE
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412175562

rs_886041911

4 SubmittersRCV001192373 RCV002221160 RCV004590209

NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)

SNV
Germline

Chr22:50625228

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324725

rs_148352371

2 SubmittersRCV001211652

NM_000487.6(ARSA):c.1162G>T (p.Val388Phe)

SNV
Germline

Chr22:50625627

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412170144

rs_1222719732

1 SubmittersRCV001231567

NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)

SNV
Germline

Chr22:50626228

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412174737

rs_74315484

2 SubmittersRCV001237276

NM_000487.6(ARSA):c.413C>A (p.Pro138His)

SNV
Germline

Chr22:50627218

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412180394

rs_74315462

1 SubmittersRCV001248156

NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr22:50625297

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412168081

rs_973061258

1 SubmittersRCV001250463

NM_000487.6(ARSA):c.1200C>T (p.Phe400=)

SNV
Germline

Chr22:50625589

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA515391473

rs_1175674325

2 SubmittersRCV001250462

NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)

SNV
Germline

Chr22:50625964

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Single Submitter

CA412171445

rs_2082658031

3 SubmittersRCV001250460 RCV001573988

NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro)

SNV
Germline

Chr22:50626036

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA412172304

rs_2082660121

2 SubmittersRCV001250459 RCV005236733

NM_000487.6(ARSA):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr22:50626745

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176696

rs_2082676249

1 SubmittersRCV001250457

NM_000487.6(ARSA):c.413C>G (p.Pro138Arg)

SNV
Germline

Chr22:50627218

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412180391

rs_74315462

3 SubmittersRCV001268142 RCV003607419

NM_000487.6(ARSA):c.378G>A (p.Trp126Ter)

SNV
Germline

Chr22:50627253

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412180720

rs_2082689270

2 SubmittersRCV001268355 RCV005029852

NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)

SNV
Germline

Chr10:71819769

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Condition: not provided
Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547474

rs_754680319

4 SubmittersRCV002537887 RCV003481049 RCV001280270 RCV003355353

NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)

SNV
Germline

Chr10:71819830

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA5547486

rs_765744298

3 SubmittersRCV001280271 RCV001449850 RCV002541741

NM_000487.6(ARSA):c.581C>A (p.Pro194His)

SNV
Germline

Chr22:50626937

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA325531514

rs_769492279

3 SubmittersRCV001290419

NM_000487.6(ARSA):c.607T>C (p.Tyr203His)

SNV
Germline

Chr22:50626911

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412177333

rs_2082680103

4 SubmittersRCV001290420

NM_000487.6(ARSA):c.979+8C>T

SNV
Germline

Chr22:50626146

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324861

rs_746862304

2 SubmittersRCV001329926

NM_000487.6(ARSA):c.385G>A (p.Gly129Arg)

SNV
Germline

Chr22:50627246

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10325043

rs_753872402

2 SubmittersRCV001345265

NM_000487.6(ARSA):c.901C>T (p.Arg301Trp)

SNV
Germline

Chr22:50626232

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA412174765

rs_794727704

4 SubmittersRCV001353058 RCV002547576

NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)

SNV
Germline

Chr22:50626744

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA10324936

rs_748583298

4 SubmittersRCV001379881 RCV004526847

NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)

SNV
Germline

Chr22:50627293

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10325050

rs_777431148

6 SubmittersRCV001376979 RCV001574994

NM_000487.6(ARSA):c.160C>G (p.Leu54Val)

SNV
Germline

Chr22:50627620

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412182520

rs_1410632651

2 SubmittersRCV001377180

NM_000487.6(ARSA):c.1107+1G>T

SNV
Germline

Chr22:50625935

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412171081

rs_2146718906

1 SubmittersRCV001382884

NM_000487.6(ARSA):c.685-2A>G

SNV
Germline

Chr22:50626762

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412176804

rs_1490196552

3 SubmittersRCV001380268 RCV003324831

NM_000487.6(ARSA):c.891C>T (p.Ser297=)

SNV
Germline

Chr22:50626242

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324885

rs_770536697

2 SubmittersRCV001498448

NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)

SNV
Germline

Chr22:50627602

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA325531670

rs_867538940

4 SubmittersRCV001557720 RCV003388025

NM_000487.6(ARSA):c.276C>T (p.Gly92=)

SNV
Germline

Chr22:50627355

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA515391587

rs_978006787

2 SubmittersRCV001559153

NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)

SNV
Germline

Chr22:50627030

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412177976

rs_1430695346

1 SubmittersRCV001580606

NM_000487.6(ARSA):c.633G>A (p.Met211Ile)

SNV
Germline

Chr22:50626885

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324961

rs_773059458

3 SubmittersRCV001620225 RCV001866259

NM_000487.6(ARSA):c.1187A>C (p.Tyr396Ser)

SNV
Germline

Chr22:50625602

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412169942

rs_2146717660

1 SubmittersRCV001733823

NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly)

SNV
Germline

Chr22:50625437

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412169360

rs_1383481612

2 SubmittersRCV001775249

NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)

SNV
Germline

Chr22:50627387

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA412181884

rs_1313802305

4 SubmittersRCV001785963 RCV003319478

NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)

SNV
Germline

Chr22:50626603

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA325531453

rs_966673017

5 SubmittersRCV001785964 RCV005237987

NM_000487.6(ARSA):c.746T>G (p.Phe249Cys)

SNV
Germline

Chr22:50626699

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412176411

rs_199476384

2 SubmittersRCV001806304

NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys)

SNV
Germline

Chr22:50625399

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412168961

rs_2146716641

1 SubmittersRCV001824209

NM_000487.6(ARSA):c.56T>C (p.Val19Ala)

SNV
Germline

Chr22:50627724

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA412183565

rs_1235007867

3 SubmittersRCV001919225 RCV005482998

NM_000487.6(ARSA):c.700C>G (p.Gln234Glu)

SNV
Germline

Chr22:50626745

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176698

rs_2082676249

1 SubmittersRCV001991704

NM_000487.6(ARSA):c.109G>C (p.Asp37His)

SNV
Germline

Chr22:50627671

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412183080

rs_2146728318

1 SubmittersRCV002032009

NM_000487.6(ARSA):c.892G>A (p.Gly298Ser)

SNV
Germline

Chr22:50626241

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324884

rs_748876604

2 SubmittersRCV001961325

NM_000487.6(ARSA):c.448C>T (p.Pro150Ser)

SNV
Germline

Chr22:50627183

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412180070

rs_1569081077

1 SubmittersRCV001917446

NM_000487.6(ARSA):c.370G>T (p.Gly124Cys)

SNV
Germline

Chr22:50627261

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA325531581

rs_74315461

2 SubmittersRCV002016655

NM_000487.6(ARSA):c.605G>A (p.Arg202His)

SNV
Germline

Chr22:50626913

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10324968

rs_201794808

7 SubmittersRCV001967480 RCV002225950 RCV003167333

NM_000487.6(ARSA):c.1211-2A>G

SNV
Germline

Chr22:50625466

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA325531231

rs_74925710

2 SubmittersRCV002051131

NM_000487.6(ARSA):c.1282C>G (p.Pro428Ala)

SNV
Germline

Chr22:50625393

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412168904

rs_2146716603

1 SubmittersRCV001995345

NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)

SNV
Germline

Chr22:50627361

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412181697

rs_780399417

1 SubmittersRCV001916815

NM_000487.6(ARSA):c.392G>A (p.Gly131Glu)

SNV
Germline

Chr22:50627239

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA412180582

rs_1336260427

2 SubmittersRCV001905445 RCV004728870

NM_000487.6(ARSA):c.724G>T (p.Glu242Ter)

SNV
Germline

Chr22:50626721

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412176543

rs_757891932

2 SubmittersRCV001929090

NM_000487.6(ARSA):c.771T>A (p.Asp257Glu)

SNV
Germline

Chr22:50626674

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10324925

rs_563053401

3 SubmittersRCV002009219

NM_000487.6(ARSA):c.892G>T (p.Gly298Cys)

SNV
Germline

Chr22:50626241

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412174821

rs_748876604

2 SubmittersRCV002004843

NM_000487.6(ARSA):c.224+1G>T

SNV
Germline

Chr22:50627555

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412182068

rs_1555901108

1 SubmittersRCV002011795

NM_000487.6(ARSA):c.224+2T>A

SNV
Germline

Chr22:50627554

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412182064

rs_2146727518

1 SubmittersRCV002031058

NM_000487.6(ARSA):c.581C>G (p.Pro194Arg)

SNV
Germline

Chr22:50626937

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412177449

rs_769492279

3 SubmittersRCV001920712

NM_000487.6(ARSA):c.460G>A (p.Asp154Asn)

SNV
Germline

Chr22:50627171

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412179968

rs_199476365

2 SubmittersRCV001920743

NM_000487.6(ARSA):c.1107+1G>A

SNV
Germline

Chr22:50625935

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412171105

rs_2146718906

2 SubmittersRCV001941577

NM_000487.6(ARSA):c.1197C>G (p.His399Gln)

SNV
Germline

Chr22:50625592

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324799

rs_752206330

2 SubmittersRCV002025304

NM_000487.6(ARSA):c.662T>C (p.Phe221Ser)

SNV
Germline

Chr22:50626856

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412177028

rs_2146723107

1 SubmittersRCV001888514

NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter)

SNV
Germline

Chr22:50625382

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412168835

rs_1209071029

1 SubmittersRCV001953645

NM_000487.6(ARSA):c.826A>T (p.Thr276Ser)

SNV
Germline

Chr22:50626619

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324916

rs_140966324

2 SubmittersRCV002029692

NM_000487.6(ARSA):c.937C>G (p.Arg313Gly)

SNV
Germline

Chr22:50626196

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324870

rs_551472773

3 SubmittersRCV001980760

NM_000487.6(ARSA):c.731C>A (p.Ser244Ter)

SNV
Germline

Chr22:50626714

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176509

rs_1394861740

1 SubmittersRCV001895276

NM_000487.6(ARSA):c.802G>A (p.Gly268Arg)

SNV
Germline

Chr22:50626643

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA412176099

rs_1404723529

3 SubmittersRCV001914136 RCV004044053

NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg)

SNV
Germline

Chr22:50625207

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
ARSA-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10324722

rs_755974448

3 SubmittersRCV001916305 RCV003395277 RCV005601833

NM_000487.6(ARSA):c.1108-1G>C

SNV
Germline

Chr22:50625682

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412170860

rs_2146718041

1 SubmittersRCV002222915

NM_000487.6(ARSA):c.248T>C (p.Leu83Pro)

SNV
Germline

Chr22:50627383

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA412181861

rs_1190061000

4 SubmittersRCV002247162 RCV003500692 RCV004526919

NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)

SNV
Germline

Chr22:50625396

Conflicting classifications of pathogenicity

not specified
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA412168917

rs_74315485

2 SubmittersRCV003235764 RCV003064665

NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)

SNV
Germline

Chr22:50626226

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174715

rs_1276584787

2 SubmittersRCV003064666

NM_000487.6(ARSA):c.436T>C (p.Phe146Leu)

SNV
Germline

Chr22:50627195

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10325032

rs_747725187

2 SubmittersRCV003041420

NM_000487.6(ARSA):c.412C>A (p.Pro138Thr)

SNV
Germline

Chr22:50627219

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10325040

rs_60504011

2 SubmittersRCV003041421

NM_000487.6(ARSA):c.765G>C (p.Glu255Asp)

SNV
Germline

Chr22:50626680

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA325531461

rs_372250391

1 SubmittersRCV003052681

NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr)

SNV
Germline

Chr22:50625452

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412169510

rs_779702635

2 SubmittersRCV003067265

NM_000487.6(ARSA):c.116G>A (p.Gly39Asp)

SNV
Germline

Chr22:50627664

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10325113

rs_781625939

3 SubmittersRCV003074893

NM_000487.6(ARSA):c.427T>C (p.Phe143Leu)

SNV
Germline

Chr22:50627204

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412180220

rs_2518333422

1 SubmittersRCV003061639

NM_000487.6(ARSA):c.301G>T (p.Gly101Cys)

SNV
Germline

Chr22:50627330

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA325531597

rs_1013216151

1 SubmittersRCV002620764

NM_000487.6(ARSA):c.926A>G (p.Glu309Gly)

SNV
Germline

Chr22:50626207

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174585

rs_1085308016

1 SubmittersRCV002659128

NM_000487.6(ARSA):c.460G>C (p.Asp154His)

SNV
Germline

Chr22:50627171

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10325030

rs_199476365

3 SubmittersRCV002627640 RCV005626678

NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)

SNV
Germline

Chr22:50627386

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412181874

rs_769892461

1 SubmittersRCV002716076

NM_000487.6(ARSA):c.970A>T (p.Ile324Phe)

SNV
Germline

Chr22:50626163

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174271

rs_557527090

1 SubmittersRCV002776250

NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys)

SNV
Germline

Chr22:50627658

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA325531682

rs_965484858

2 SubmittersRCV002756041

NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)

SNV
Germline

Chr22:50625276

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA412167900

rs_2518321662

3 SubmittersRCV002819939 RCV003418614

NM_000487.6(ARSA):c.251C>G (p.Pro84Arg)

SNV
Germline

Chr22:50627380

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412181831

rs_6151411

1 SubmittersRCV002801671

NM_000487.6(ARSA):c.584G>A (p.Trp195Ter)

SNV
Germline

Chr22:50626934

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412177438

rs_1344892313

1 SubmittersRCV002848202

NM_000487.6(ARSA):c.1196A>G (p.His399Arg)

SNV
Germline

Chr22:50625593

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412169832

rs_1603444881

1 SubmittersRCV002876808

NM_000487.6(ARSA):c.680C>T (p.Ser227Phe)

SNV
Germline

Chr22:50626838

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176879

rs_138468395

1 SubmittersRCV002982621

NM_000487.6(ARSA):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr22:50626944

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412177474

rs_1238459356

1 SubmittersRCV002996828

NM_000487.6(ARSA):c.770A>T (p.Asp257Val)

SNV
Germline

Chr22:50626675

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176245

rs_2518329600

1 SubmittersRCV003054290

NM_000487.6(ARSA):c.386G>A (p.Gly129Glu)

SNV
Germline

Chr22:50627245

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412180652

rs_2518333795

1 SubmittersRCV003047254

NM_000487.6(ARSA):c.620C>A (p.Ala207Asp)

SNV
Germline

Chr22:50626898

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324965

rs_759098239

2 SubmittersRCV003154875

NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)

SNV
Germline

Chr22:50627257

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412180758

rs_2518333855

1 SubmittersRCV003318425

NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)

SNV
Germline

Chr22:50626708

Conflicting classifications of pathogenicity

not specified
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA412176470

rs_199476366

2 SubmittersRCV003331831 RCV003777393

NM_000487.6(ARSA):c.931G>T (p.Gly311Cys)

SNV
Germline

Chr22:50626202

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174553

rs_74315459

1 SubmittersRCV003501561

NM_000487.6(ARSA):c.869G>C (p.Arg290Pro)

SNV
Germline

Chr22:50626264

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412175040

rs_199476355

1 SubmittersRCV003501659

NM_000487.6(ARSA):c.1223G>A (p.Ser408Asn)

SNV
Germline

Chr22:50625452

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324762

rs_779702635

2 SubmittersRCV003501565

NM_000487.6(ARSA):c.1107+1G>C

SNV
Germline

Chr22:50625935

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412171099

rs_2146718906

1 SubmittersRCV003501862

NM_000487.6(ARSA):c.629T>C (p.Leu210Pro)

SNV
Germline

Chr22:50626889

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412177219

rs_762593908

1 SubmittersRCV003501755

NM_000487.6(ARSA):c.136T>C (p.Ser46Pro)

SNV
Germline

Chr22:50627644

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA325531680

rs_867061766

2 SubmittersRCV003501756

NM_000487.6(ARSA):c.764A>C (p.Glu255Ala)

SNV
Germline

Chr22:50626681

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176286

rs_2518329660

1 SubmittersRCV003502002

NM_000487.6(ARSA):c.992A>G (p.Glu331Gly)

SNV
Germline

Chr22:50626051

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412172514

rs_2518326252

1 SubmittersRCV003500315

NM_000487.6(ARSA):c.868C>G (p.Arg290Gly)

SNV
Germline

Chr22:50626265

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412175055

rs_74315473

1 SubmittersRCV003500470

NM_000487.6(ARSA):c.928G>A (p.Gly310Ser)

SNV
Germline

Chr22:50626205

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174565

rs_2518326996

1 SubmittersRCV003500207

NM_000487.6(ARSA):c.1199T>C (p.Phe400Ser)

SNV
Germline

Chr22:50625590

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412169808

rs_2518323495

1 SubmittersRCV003500383

NM_000487.6(ARSA):c.676G>T (p.Ala226Ser)

SNV
Germline

Chr22:50626842

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA325531479

rs_892043822

2 SubmittersRCV003607621 RCV005620483

NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln)

SNV
Germline

Chr22:50625653

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324808

rs_74315478

2 SubmittersRCV003607606

NM_000487.6(ARSA):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr22:50627043

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324999

rs_760271887

1 SubmittersRCV003607710

NM_000487.6(ARSA):c.580C>T (p.Pro194Ser)

SNV
Germline

Chr22:50626938

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412177451

rs_777554660

1 SubmittersRCV003607708

NM_000487.6(ARSA):c.916A>G (p.Thr306Ala)

SNV
Germline

Chr22:50626217

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174667

rs_2518327103

1 SubmittersRCV003607724

NM_000487.6(ARSA):c.928G>T (p.Gly310Cys)

SNV
Germline

Chr22:50626205

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174562

rs_2518326996

1 SubmittersRCV003607745

NM_000487.6(ARSA):c.899T>G (p.Leu300Trp)

SNV
Germline

Chr22:50626234

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174773

rs_199476389

1 SubmittersRCV003608019

NM_000487.6(ARSA):c.771T>G (p.Asp257Glu)

SNV
Germline

Chr22:50626674

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176240

rs_563053401

1 SubmittersRCV003608014

NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter)

SNV
Germline

Chr22:50627585

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412182264

rs_764737103

1 SubmittersRCV003607932

NM_000487.6(ARSA):c.225-1G>C

SNV
Germline

Chr22:50627407

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412182001

rs_2146726825

1 SubmittersRCV003608299

NM_000487.6(ARSA):c.135C>G (p.Ser45Arg)

SNV
Germline

Chr22:50627645

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412182777

rs_375493957

1 SubmittersRCV003608239

NM_000487.6(ARSA):c.908G>T (p.Gly303Val)

SNV
Germline

Chr22:50626225

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412174706

rs_1421448666

1 SubmittersRCV003608337

NM_000487.6(ARSA):c.1282C>T (p.Pro428Ser)

SNV
Germline

Chr22:50625393

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412168900

rs_2146716603

1 SubmittersRCV003608351

NM_000487.6(ARSA):c.412C>G (p.Pro138Ala)

SNV
Germline

Chr22:50627219

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA325531576

rs_60504011

1 SubmittersRCV003608448

NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe)

SNV
Germline

Chr22:50625387

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324753

rs_763190974

2 SubmittersRCV003608382

NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly)

SNV
Germline

Chr22:50625615

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324803

rs_74315480

2 SubmittersRCV003608418

NM_000487.6(ARSA):c.958T>G (p.Trp320Gly)

SNV
Germline

Chr22:50626175

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324868

rs_748753862

2 SubmittersRCV003608378

NM_000487.6(ARSA):c.256C>G (p.Arg86Gly)

SNV
Germline

Chr22:50627375

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412181794

rs_199476352

1 SubmittersRCV003608531

NM_000487.6(ARSA):c.93C>G (p.Asp31Glu)

SNV
Germline

Chr22:50627687

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10325117

rs_749426428

1 SubmittersRCV003608621

NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)

SNV
Germline

Chr22:50627004

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10324988

rs_74315271

2 SubmittersRCV003607134

NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)

SNV
Germline

Chr7:143331243

Likely pathogenic

Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA369641786

rs_2487058978

3 SubmittersRCV003782655 RCV004527008 RCV004542250

NM_000487.6(ARSA):c.863C>A (p.Thr288Asn)

SNV
Germline

Chr22:50626270

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412175113

rs_1391709910