Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)	SNV Germline	Chr10:71828084	Pathogenic/Likely pathogenic	Sphingolipid activator protein 1 deficiency Inborn genetic diseases Condition: not provided Combined PSAP deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Parkinson disease 24, autosomal dominant, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA123055	rs_121918103	6 SubmittersRCV000014289 RCV000624006 RCV000732106 RCV005042048
NM_002778.4(PSAP):c.-28A>C	SNV Germline	Chr10:71851249	Conflicting classifications of pathogenicity	not specified Gaucher disease due to saposin C deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547957	rs_375720661	2 SubmittersRCV000245942 RCV000265215 RCV000320357 RCV000266404 RCV000360960
NM_002778.4(PSAP):c.*122C>G	SNV Germline	Chr10:71817319	Conflicting classifications of pathogenicity	Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10628841	rs_113284884	2 SubmittersRCV000267855 RCV000298428 RCV000360087 RCV000390908 RCV001556327
NM_002778.4(PSAP):c.1476T>C (p.Thr492=)	SNV Germline	Chr10:71818680	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	Criteria Provided Conflicting Classifications	CA5547327	rs_139178900	2 SubmittersRCV000287337 RCV000336521 RCV000340063 RCV000904670
NM_002778.4(PSAP):c.1432-4A>G	SNV Germline	Chr10:71818728	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547334	rs_775086571	2 SubmittersRCV000261764 RCV000319311 RCV000368118 RCV000371699
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.174+9C>T	SNV Germline	Chr10:71834363	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	Criteria Provided Conflicting Classifications	CA5547878	rs_141133813	2 SubmittersRCV000307686 RCV000361163 RCV000362343 RCV000895393
NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)	SNV Germline	Chr10:71834458	Conflicting classifications of pathogenicity	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA5547906	rs_144942998	4 SubmittersRCV000304205 RCV000345088 RCV000393668 RCV000972285 RCV001552293
NM_002778.4(PSAP):c.41-13G>C	SNV Germline	Chr10:71834518	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency	Criteria Provided Conflicting Classifications	CA5547926	rs_138010978	2 SubmittersRCV000263028 RCV000275892 RCV000316930 RCV000371674
NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)	SNV Germline	Chr10:71818700	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547329	rs_749660716	3 SubmittersRCV000309664 RCV000366675 RCV000402799 RCV000407182 RCV002520626
NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)	SNV Germline	Chr10:71820245	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547544	rs_749663645	2 SubmittersRCV000276629 RCV000294309 RCV000333973 RCV000386288
NM_002778.4(PSAP):c.577-10T>C	SNV Germline	Chr10:71828167	Conflicting classifications of pathogenicity	Combined PSAP deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547724	rs_185892516	2 SubmittersRCV000259735 RCV000284433 RCV000319640 RCV000898101
NM_002778.4(PSAP):c.227T>A (p.Met76Lys)	SNV Germline	Chr10:71831868	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency	Criteria Provided Conflicting Classifications	CA5547842	rs_377024801	2 SubmittersRCV000294452 RCV000329512 RCV000349338 RCV000384126
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.1012A>G (p.Ile338Val)	SNV Germline	Chr10:71819894	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547512	rs_544300820	1 SubmittersRCV000273320 RCV000325945 RCV000365539 RCV000382922
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.189C>T (p.Cys63=)	SNV Germline	Chr10:71831906	Conflicting classifications of pathogenicity	Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA5547853	rs_111369573	5 SubmittersRCV000300495 RCV000301590 RCV000355292 RCV000971779 RCV001672431
NM_002778.4(PSAP):c.*9A>G	SNV Germline	Chr10:71817432	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	Criteria Provided Conflicting Classifications	CA5547287	rs_376628499	1 SubmittersRCV000279004 RCV000294266 RCV000318911 RCV000375756
NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)	SNV Germline	Chr10:71819554	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	Criteria Provided Conflicting Classifications	CA5547418	rs_529719024	2 SubmittersRCV000267782 RCV000320675 RCV000360171 RCV000377595
NM_002778.4(PSAP):c.714C>G (p.Ala238=)	SNV Germline	Chr10:71828020	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA5547688	rs_141199649	3 SubmittersRCV000332576 RCV000354645 RCV000370671 RCV000902915 RCV003417974
NM_002778.4(PSAP):c.557G>A (p.Arg186His)	SNV Germline	Chr10:71828896	Conflicting classifications of pathogenicity	Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547747	rs_138880818	2 SubmittersRCV000291043 RCV000345936 RCV000391944 RCV000401145
NM_002778.4(PSAP):c.250-12G>A	SNV Germline	Chr10:71831263	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Combined PSAP deficiency	Criteria Provided Conflicting Classifications	CA10636149	rs_886047152	2 SubmittersRCV000268193 RCV000288083 RCV000323233 RCV000382490
NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)	SNV Germline	Chr10:71834434	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547902	rs_535525554	2 SubmittersRCV000279820 RCV000333853 RCV000334914 RCV000388278
NM_002778.4(PSAP):c.40+12G>A	SNV Germline	Chr10:71851170	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA10636150	rs_886047153	2 SubmittersRCV000283508 RCV000318811 RCV000343158 RCV000378161
NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter)	SNV Germline	Chr10:71819093	Likely pathogenic	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Condition: not provided	Criteria Provided Single Submitter	CA377142142	rs_1554879741	2 SubmittersRCV000505561 RCV004719844
NM_002778.4(PSAP):c.257T>A (p.Ile86Asn)	SNV Germline	Chr10:71831244	Likely pathogenic	Inborn genetic diseases Krabbe disease due to saposin A deficiency PSAP-related disorder	Criteria Provided Single Submitter	CA377154031	rs_1554881272	3 SubmittersRCV000624741 RCV001731817 RCV004722987
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_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.*737G>A	SNV Germline	Chr10:71816704	Conflicting classifications of pathogenicity	Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA209450816	rs_147046509	1 SubmittersRCV001106602 RCV001106603 RCV001108767 RCV001108768
NM_002778.4(PSAP):c.*376A>G	SNV Germline	Chr10:71817065	Conflicting classifications of pathogenicity	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA209451217	rs_141906397	1 SubmittersRCV001103620 RCV001103619 RCV001105558 RCV001105559
NM_002778.4(PSAP):c.1197C>T (p.His399=)	SNV Germline	Chr10:71819618	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Conflicting Classifications	CA5547431	rs_748761213	2 SubmittersRCV001106864 RCV001106865 RCV001106866 RCV001106867
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)	SNV Germline	Chr10:71828888	Conflicting classifications of pathogenicity	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency not specified	Criteria Provided Conflicting Classifications	CA5547746	rs_188854022	3 SubmittersRCV001104312 RCV001104311 RCV001104309 RCV001104310 RCV003235470
NM_002778.4(PSAP):c.423C>T (p.Leu141=)	SNV Germline	Chr10:71829030	Conflicting classifications of pathogenicity	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547771	rs_780891597	2 SubmittersRCV001107069 RCV001107070 RCV001107067 RCV001107068
NM_002778.4(PSAP):c.249+6C>T	SNV Germline	Chr10:71831840	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Combined PSAP deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA5547838	rs_774663731	4 SubmittersRCV001104399 RCV001104400 RCV001104401 RCV001104402 RCV002555021 RCV004792724
NM_002778.4(PSAP):c.721-1G>A	SNV Germline	Chr10:71825894	Likely pathogenic	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Multiple Submitters No Conflicts	CA377149669	rs_1842392331	2 SubmittersRCV001244145 RCV004821301
NM_002778.4(PSAP):c.209T>G (p.Val70Gly)	SNV Germline	Chr10:71831886	Pathogenic	Krabbe disease due to saposin A deficiency	No Assertion Criteria Provided	CA377154983	rs_2133049150	1 SubmittersRCV001731262
NM_002778.4(PSAP):c.1005+1G>A	SNV Germline	Chr10:71820239	Pathogenic/Likely pathogenic	Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency Parkinson disease 24, autosomal dominant, susceptibility to Combined PSAP deficiency	Criteria Provided Multiple Submitters No Conflicts	CA209455674	rs_113365744	4 SubmittersRCV002541348 RCV001801340 RCV005040390 RCV004798930
NM_002778.4(PSAP):c.148C>T (p.Gln50Ter)	SNV Germline	Chr10:71834398	Pathogenic	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Parkinson disease 24, autosomal dominant, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA377155827	rs_2494541533	2 SubmittersRCV003516323 RCV005047689
NM_002778.4(PSAP):c.1351-1G>T	SNV Germline	Chr10:71819112	Likely pathogenic	Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Parkinson disease 24, autosomal dominant, susceptibility to Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005046401
NM_002778.4(PSAP):c.1006-1G>A	SNV Germline	Chr10:71819901	Likely pathogenic	Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Parkinson disease 24, autosomal dominant, susceptibility to Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005049098
NM_002778.4(PSAP):c.1005+1G>T	SNV Germline	Chr10:71820239	Likely pathogenic	Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Parkinson disease 24, autosomal dominant, susceptibility to Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005048317
NM_002778.4(PSAP):c.568C>T (p.Gln190Ter)	SNV Germline	Chr10:71828885	Likely pathogenic	Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Parkinson disease 24, autosomal dominant, susceptibility to Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005048329

NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)

SNV
Germline

Chr10:71828084

Pathogenic/Likely pathogenic

Sphingolipid activator protein 1 deficiency
Inborn genetic diseases
Condition: not provided
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency
Parkinson disease 24, autosomal dominant, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA123055

rs_121918103

6 SubmittersRCV000014289 RCV000624006 RCV000732106 RCV005042048

NM_002778.4(PSAP):c.-28A>C

SNV
Germline

Chr10:71851249

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547957

rs_375720661

2 SubmittersRCV000245942 RCV000265215 RCV000320357 RCV000266404 RCV000360960

NM_002778.4(PSAP):c.*122C>G

SNV
Germline

Chr10:71817319

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10628841

rs_113284884

2 SubmittersRCV000267855 RCV000298428 RCV000360087 RCV000390908 RCV001556327

NM_002778.4(PSAP):c.1476T>C (p.Thr492=)

SNV
Germline

Chr10:71818680

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

Criteria Provided
Conflicting Classifications

CA5547327

rs_139178900

2 SubmittersRCV000287337 RCV000336521 RCV000340063 RCV000904670

NM_002778.4(PSAP):c.1432-4A>G

SNV
Germline

Chr10:71818728

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547334

rs_775086571

2 SubmittersRCV000261764 RCV000319311 RCV000368118 RCV000371699

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.174+9C>T

SNV
Germline

Chr10:71834363

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

Criteria Provided
Conflicting Classifications

CA5547878

rs_141133813

2 SubmittersRCV000307686 RCV000361163 RCV000362343 RCV000895393

NM_002778.4(PSAP):c.88G>T (p.Ala30Ser)

SNV
Germline

Chr10:71834458

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547906

rs_144942998

4 SubmittersRCV000304205 RCV000345088 RCV000393668 RCV000972285 RCV001552293

NM_002778.4(PSAP):c.41-13G>C

SNV
Germline

Chr10:71834518

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547926

rs_138010978

2 SubmittersRCV000263028 RCV000275892 RCV000316930 RCV000371674

NM_002778.4(PSAP):c.1456C>T (p.His486Tyr)

SNV
Germline

Chr10:71818700

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547329

rs_749660716

3 SubmittersRCV000309664 RCV000366675 RCV000402799 RCV000407182 RCV002520626

NM_002778.4(PSAP):c.1000A>T (p.Thr334Ser)

SNV
Germline

Chr10:71820245

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547544

rs_749663645

2 SubmittersRCV000276629 RCV000294309 RCV000333973 RCV000386288

NM_002778.4(PSAP):c.577-10T>C

SNV
Germline

Chr10:71828167

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547724

rs_185892516

2 SubmittersRCV000259735 RCV000284433 RCV000319640 RCV000898101

NM_002778.4(PSAP):c.227T>A (p.Met76Lys)

SNV
Germline

Chr10:71831868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547842

rs_377024801

2 SubmittersRCV000294452 RCV000329512 RCV000349338 RCV000384126

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.1012A>G (p.Ile338Val)

SNV
Germline

Chr10:71819894

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547512

rs_544300820

1 SubmittersRCV000273320 RCV000325945 RCV000365539 RCV000382922

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.189C>T (p.Cys63=)

SNV
Germline

Chr10:71831906

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547853

rs_111369573

5 SubmittersRCV000300495 RCV000301590 RCV000355292 RCV000971779 RCV001672431

NM_002778.4(PSAP):c.*9A>G

SNV
Germline

Chr10:71817432

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

Criteria Provided
Conflicting Classifications

CA5547287

rs_376628499

1 SubmittersRCV000279004 RCV000294266 RCV000318911 RCV000375756

NM_002778.4(PSAP):c.1261C>T (p.Arg421Cys)

SNV
Germline

Chr10:71819554

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

Criteria Provided
Conflicting Classifications

CA5547418

rs_529719024

2 SubmittersRCV000267782 RCV000320675 RCV000360171 RCV000377595

NM_002778.4(PSAP):c.714C>G (p.Ala238=)

SNV
Germline

Chr10:71828020

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547688

rs_141199649

3 SubmittersRCV000332576 RCV000354645 RCV000370671 RCV000902915 RCV003417974

NM_002778.4(PSAP):c.557G>A (p.Arg186His)

SNV
Germline

Chr10:71828896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547747

rs_138880818

2 SubmittersRCV000291043 RCV000345936 RCV000391944 RCV000401145

NM_002778.4(PSAP):c.250-12G>A

SNV
Germline

Chr10:71831263

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10636149

rs_886047152

2 SubmittersRCV000268193 RCV000288083 RCV000323233 RCV000382490

NM_002778.4(PSAP):c.112A>T (p.Thr38Ser)

SNV
Germline

Chr10:71834434

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547902

rs_535525554

2 SubmittersRCV000279820 RCV000333853 RCV000334914 RCV000388278

NM_002778.4(PSAP):c.40+12G>A

SNV
Germline

Chr10:71851170

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10636150

rs_886047153

2 SubmittersRCV000283508 RCV000318811 RCV000343158 RCV000378161

NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter)

SNV
Germline

Chr10:71819093

Likely pathogenic

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

Criteria Provided
Single Submitter

CA377142142

rs_1554879741

2 SubmittersRCV000505561 RCV004719844

NM_002778.4(PSAP):c.257T>A (p.Ile86Asn)

SNV
Germline

Chr10:71831244

Likely pathogenic

Inborn genetic diseases
Krabbe disease due to saposin A deficiency
PSAP-related disorder

Criteria Provided
Single Submitter

CA377154031

rs_1554881272

3 SubmittersRCV000624741 RCV001731817 RCV004722987

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_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.*737G>A

SNV
Germline

Chr10:71816704

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA209450816

rs_147046509

1 SubmittersRCV001106602 RCV001106603 RCV001108767 RCV001108768

NM_002778.4(PSAP):c.*376A>G

SNV
Germline

Chr10:71817065

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA209451217

rs_141906397

1 SubmittersRCV001103620 RCV001103619 RCV001105558 RCV001105559

NM_002778.4(PSAP):c.1197C>T (p.His399=)

SNV
Germline

Chr10:71819618

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547431

rs_748761213

2 SubmittersRCV001106864 RCV001106865 RCV001106866 RCV001106867

NM_002778.4(PSAP):c.565C>T (p.Pro189Ser)

SNV
Germline

Chr10:71828888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547746

rs_188854022

3 SubmittersRCV001104312 RCV001104311 RCV001104309 RCV001104310 RCV003235470

NM_002778.4(PSAP):c.423C>T (p.Leu141=)

SNV
Germline

Chr10:71829030

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547771

rs_780891597

2 SubmittersRCV001107069 RCV001107070 RCV001107067 RCV001107068

NM_002778.4(PSAP):c.249+6C>T

SNV
Germline

Chr10:71831840

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547838

rs_774663731

4 SubmittersRCV001104399 RCV001104400 RCV001104401 RCV001104402 RCV002555021 RCV004792724

NM_002778.4(PSAP):c.721-1G>A

SNV
Germline

Chr10:71825894

Likely pathogenic

Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA377149669

rs_1842392331

2 SubmittersRCV001244145 RCV004821301

NM_002778.4(PSAP):c.209T>G (p.Val70Gly)

SNV
Germline

Chr10:71831886

Pathogenic

Krabbe disease due to saposin A deficiency

No Assertion Criteria Provided

CA377154983

rs_2133049150

1 SubmittersRCV001731262

NM_002778.4(PSAP):c.1005+1G>A

SNV
Germline

Chr10:71820239

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA209455674

rs_113365744

4 SubmittersRCV002541348 RCV001801340 RCV005040390 RCV004798930

NM_002778.4(PSAP):c.148C>T (p.Gln50Ter)

SNV
Germline

Chr10:71834398

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377155827

rs_2494541533

2 SubmittersRCV003516323 RCV005047689

NM_002778.4(PSAP):c.1351-1G>T

SNV
Germline

Chr10:71819112

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005046401

NM_002778.4(PSAP):c.1006-1G>A

SNV
Germline

Chr10:71819901

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005049098

NM_002778.4(PSAP):c.1005+1G>T

SNV
Germline

Chr10:71820239

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005048317

NM_002778.4(PSAP):c.568C>T (p.Gln190Ter)

SNV
Germline

Chr10:71828885

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV005048329