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 Krabbe disease due to saposin A deficiency Parkinson disease 24, autosomal dominant, susceptibility to Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Multiple Submitters No Conflicts	CA123055	rs_121918103	8 SubmittersRCV000014289 RCV000624006 RCV000732106 RCV005042048
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.722G>C (p.Cys241Ser)	SNV Germline	Chr10:71825892	Pathogenic/Likely pathogenic	Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Parkinson disease 24, autosomal dominant, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA123057	rs_121918104	6 SubmittersRCV000014291 RCV000588928 RCV004527289
NM_002778.4(PSAP):c.1A>T (p.Met1Leu)	SNV Germline	Chr10:71851221	Pathogenic	Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA123061	rs_121918106	3 SubmittersRCV000014293 RCV000014294 RCV001857349
NM_002778.4(PSAP):c.577-1G>T	SNV Germline	Chr10:71828158	Pathogenic	Sphingolipid activator protein 1 deficiency Parkinson disease 24, autosomal dominant, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA377151647	rs_1589451049	3 SubmittersRCV000014295 RCV005357124
NM_002778.4(PSAP):c.643A>C (p.Asn215His)	SNV Germline	Chr10:71828091	Pathogenic/Likely pathogenic	Sphingolipid activator protein 1 deficiency PSAP-related disorder Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA123063	rs_121918107	5 SubmittersRCV000014296 RCV003398506 RCV005606634
NM_002778.4(PSAP):c.1006-2A>G	SNV Germline	Chr10:71819902	Likely pathogenic	Combined PSAP deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377145424	rs_1589446748	2 SubmittersRCV000014302 RCV001851850
NM_002778.4(PSAP):c.577-2A>G	SNV Germline	Chr10:71828159	Pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377151654	rs_1589451050	2 SubmittersRCV000014303
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.582T>C (p.Asn194=)	SNV Germline	Chr10:71828152	Conflicting classifications of pathogenicity	Condition: not provided Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications	CA5547721	rs_150177878	2 SubmittersRCV000392777 RCV001086179
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 Gaucher disease due to saposin C deficiency Combined PSAP deficiency	Criteria Provided Conflicting Classifications	CA5547334	rs_775086571	2 SubmittersRCV000261764 RCV000319311 RCV000371699 RCV000368118
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 Sphingolipid activator protein 1 deficiency Condition: not provided Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547470	rs_202125074	7 SubmittersRCV000349589 RCV000350842 RCV000389048 RCV001044241 RCV002262951 RCV001833438 RCV002520627
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)	SNV Germline	Chr10:71819850	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency not specified	Criteria Provided Conflicting Classifications	CA5547494	rs_138328594	3 SubmittersRCV000973449 RCV001103918 RCV001103919 RCV006441549
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA5547878	rs_141133813	3 SubmittersRCV000307686 RCV000361163 RCV000362343 RCV000895393 RCV006441552
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 Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547484	rs_140066253	5 SubmittersRCV000301263 RCV000335258 RCV000390949 RCV000390963 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	2 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 not specified	Criteria Provided Conflicting Classifications	CA5547853	rs_111369573	6 SubmittersRCV000300495 RCV000301590 RCV000355292 RCV000971779 RCV001672431 RCV006441551
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 Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547418	rs_529719024	3 SubmittersRCV000267782 RCV000320675 RCV000377595 RCV000360171 RCV005702175
NM_002778.4(PSAP):c.714C>G (p.Ala238=)	SNV Germline	Chr10:71828020	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	CA5547688	rs_141199649	4 SubmittersRCV000354645 RCV000332576 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.409C>G (p.Leu137Val)	SNV Germline	Chr10:71829044	Conflicting classifications of pathogenicity	Condition: not provided Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy Combined PSAP deficiency PSAP-related disorder	Criteria Provided Conflicting Classifications	CA5547774	rs_377027316	7 SubmittersRCV000484673 RCV001084808 RCV001272680 RCV001335064 RCV003902722
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.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_002778.4(PSAP):c.1146C>T (p.Cys382=)	SNV Germline	Chr10:71819760	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 Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547472	rs_573095617	3 SubmittersRCV000943827 RCV001107536 RCV001107537 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 Krabbe disease due to saposin A deficiency Parkinson disease 24, autosomal dominant, susceptibility to 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_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	Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency not specified	Criteria Provided Conflicting Classifications	CA5547746	rs_188854022	3 SubmittersRCV001104309 RCV001104310 RCV001104312 RCV001104311 RCV003235470
NM_002778.4(PSAP):c.423C>T (p.Leu141=)	SNV Germline	Chr10:71829030	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 Condition: not provided	Criteria Provided Conflicting Classifications	CA5547771	rs_780891597	3 SubmittersRCV001107070 RCV001107069 RCV001107067 RCV001107068 RCV006443721
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.1348C>T (p.Gln450Ter)	SNV Germline	Chr10:71819467	Pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377142372	rs_1842248191	1 SubmittersRCV001212745
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.1432-3T>C	SNV Germline	Chr10:71818727	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Sphingolipid activator protein 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA5547333	rs_200577646	3 SubmittersRCV001280262 RCV002537886 RCV006443798
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)	SNV Germline	Chr10:71819769	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Sphingolipid activator protein 1 deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547474	rs_754680319	4 SubmittersRCV001280270 RCV002537887 RCV003481049 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	4 SubmittersRCV001280271 RCV001449850 RCV002541741
NM_002778.4(PSAP):c.1350+1G>A	SNV Germline	Chr10:71819464	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377142345	rs_2133030537	1 SubmittersRCV001378136
NM_002778.4(PSAP):c.2T>G (p.Met1Arg)	SNV Germline	Chr10:71851220	Pathogenic/Likely pathogenic	Sphingolipid activator protein 1 deficiency Condition: not provided Parkinson disease 24, autosomal dominant, susceptibility to	Criteria Provided Multiple Submitters No Conflicts	CA377159646	rs_767713908	3 SubmittersRCV001389490 RCV005630941 RCV005860231
NM_002778.4(PSAP):c.1005+1G>A	SNV Germline	Chr10:71820239	Pathogenic/Likely pathogenic	Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency 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 Combined PSAP deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA209455674	rs_113365744	5 SubmittersRCV001801340 RCV002541348 RCV005040390 RCV004798930 RCV006251051
NM_002778.4(PSAP):c.576+1G>A	SNV Germline	Chr10:71828876	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA209466523	rs_949729827	1 SubmittersRCV002038695
NM_002778.4(PSAP):c.1351-2A>G	SNV Germline	Chr10:71819113	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377142288	rs_2133029725	1 SubmittersRCV001993817
NM_002778.4(PSAP):c.1262G>A (p.Arg421His)	SNV Germline	Chr10:71819553	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547416	rs_774088864	2 SubmittersRCV001951820 RCV006362975
NM_002778.4(PSAP):c.1204C>T (p.Gln402Ter)	SNV Germline	Chr10:71819611	Pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377143806	rs_2133031097	1 SubmittersRCV001950813
NM_002778.4(PSAP):c.375+1G>T	SNV Germline	Chr10:71831125	Likely pathogenic	Sphingolipid activator protein 1 deficiency Melanoma	Criteria Provided Single Submitter	CA377153382	rs_2133047947	2 SubmittersRCV001975717 RCV005925413
NM_002778.4(PSAP):c.721-1G>C	SNV Germline	Chr10:71825894	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377149663	rs_1842392331	1 SubmittersRCV001973402
NM_002778.4(PSAP):c.629C>A (p.Thr210Asn)	SNV Germline	Chr10:71828105	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547712	rs_774029071	2 SubmittersRCV001939979 RCV005465597
NM_002778.4(PSAP):c.910-2A>G	SNV Germline	Chr10:71820337	Likely pathogenic	Sphingolipid activator protein 1 deficiency Hepatocellular carcinoma	Criteria Provided Single Submitter	CA5547564	rs_779384030	2 SubmittersRCV001971771 RCV005925450
NM_002778.4(PSAP):c.889G>T (p.Glu297Ter)	SNV Germline	Chr10:71821896	Pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA5547585	rs_765607332	1 SubmittersRCV001942173
NM_002778.4(PSAP):c.670G>T (p.Glu224Ter)	SNV Germline	Chr10:71828064	Pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377151021	rs_2133043442	1 SubmittersRCV001934357
NM_002778.4(PSAP):c.721-13T>C	SNV Germline	Chr10:71825906	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA5547676	rs_370875535	3 SubmittersRCV002193912 RCV003481262
NM_002778.4(PSAP):c.721T>G (p.Cys241Gly)	SNV Germline	Chr10:71825893	Pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377149653	rs_1842392268	1 SubmittersRCV002291315
NM_002778.4(PSAP):c.49G>A (p.Gly17Ser)	SNV Germline	Chr10:71834497	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547921	rs_374922455	2 SubmittersRCV002775702 RCV005704971
NM_002778.4(PSAP):c.457C>T (p.Gln153Ter)	SNV Germline	Chr10:71828996	Pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377152413	rs_2494526165	1 SubmittersRCV002880738
NM_002778.4(PSAP):c.1005+1G>C	SNV Germline	Chr10:71820239	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA209455673	rs_113365744	1 SubmittersRCV002867700
NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln)	SNV Germline	Chr10:71818637	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA5547324	rs_149000433	3 SubmittersRCV002928022 RCV003883853
NM_002778.4(PSAP):c.593G>A (p.Cys198Tyr)	SNV Germline	Chr10:71828141	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377151589	rs_2494523338	1 SubmittersRCV003154637
NM_002778.4(PSAP):c.688T>G (p.Cys230Gly)	SNV Germline	Chr10:71828046	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377150798	rs_2494522736	1 SubmittersRCV003154638
NM_002778.4(PSAP):c.777+1G>A	SNV Germline	Chr10:71825836	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377149089	rs_112041816	1 SubmittersRCV003514705
NM_002778.4(PSAP):c.778-2A>G	SNV Germline	Chr10:71822009	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377148266	rs_111610925	1 SubmittersRCV003514816
NM_002778.4(PSAP):c.148C>T (p.Gln50Ter)	SNV Germline	Chr10:71834398	Pathogenic	Sphingolipid activator protein 1 deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency Parkinson disease 24, autosomal dominant, susceptibility to Sphingolipid activator protein 1 deficiency	Criteria Provided Multiple Submitters No Conflicts	CA377155827	rs_2494541533	2 SubmittersRCV003516323 RCV005047689
NM_002778.4(PSAP):c.777+1G>T	SNV Germline	Chr10:71825836	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377149087	rs_112041816	1 SubmittersRCV003515772
NM_002778.4(PSAP):c.375+2T>G	SNV Germline	Chr10:71831124	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377153376	rs_2494532805	1 SubmittersRCV003516109
NM_002778.4(PSAP):c.720+1G>A	SNV Germline	Chr10:71828013	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA209465624	rs_971589777	1 SubmittersRCV003627966
NM_002778.4(PSAP):c.1193-1G>C	SNV Germline	Chr10:71819623	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377143842	rs_2494497146	1 SubmittersRCV003627972
NM_002778.4(PSAP):c.158G>A (p.Trp53Ter)	SNV Germline	Chr10:71834388	Conflicting classifications of pathogenicity	Sphingolipid activator protein 1 deficiency Neuromuscular disease	Criteria Provided Conflicting Classifications	CA377155775	rs_2494541474	2 SubmittersRCV003628021 RCV004797646
NM_002778.4(PSAP):c.1066G>T (p.Glu356Ter)	SNV Germline	Chr10:71819840	Pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377144688	rs_2494498245	1 SubmittersRCV003628471
NM_002778.4(PSAP):c.250-1G>C	SNV Germline	Chr10:71831252	Likely pathogenic	Sphingolipid activator protein 1 deficiency	Criteria Provided Single Submitter	CA377154085	rs_2494533554	1 SubmittersRCV003626263
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
Krabbe disease due to saposin A deficiency
Parkinson disease 24, autosomal dominant, susceptibility to
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA123055

rs_121918103

8 SubmittersRCV000014289 RCV000624006 RCV000732106 RCV005042048

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.722G>C (p.Cys241Ser)

SNV
Germline

Chr10:71825892

Pathogenic/Likely pathogenic

Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Parkinson disease 24, autosomal dominant, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA123057

rs_121918104

6 SubmittersRCV000014291 RCV000588928 RCV004527289

NM_002778.4(PSAP):c.1A>T (p.Met1Leu)

SNV
Germline

Chr10:71851221

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123061

rs_121918106

3 SubmittersRCV000014293 RCV000014294 RCV001857349

NM_002778.4(PSAP):c.577-1G>T

SNV
Germline

Chr10:71828158

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377151647

rs_1589451049

3 SubmittersRCV000014295 RCV005357124

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

SNV
Germline

Chr10:71828091

Pathogenic/Likely pathogenic

Sphingolipid activator protein 1 deficiency
PSAP-related disorder
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA123063

rs_121918107

5 SubmittersRCV000014296 RCV003398506 RCV005606634

NM_002778.4(PSAP):c.1006-2A>G

SNV
Germline

Chr10:71819902

Likely pathogenic

Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377145424

rs_1589446748

2 SubmittersRCV000014302 RCV001851850

NM_002778.4(PSAP):c.577-2A>G

SNV
Germline

Chr10:71828159

Pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377151654

rs_1589451050

2 SubmittersRCV000014303

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.582T>C (p.Asn194=)

SNV
Germline

Chr10:71828152

Conflicting classifications of pathogenicity

Condition: not provided
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

CA5547721

rs_150177878

2 SubmittersRCV000392777 RCV001086179

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
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency

Criteria Provided
Conflicting Classifications

CA5547334

rs_775086571

2 SubmittersRCV000261764 RCV000319311 RCV000371699 RCV000368118

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

Criteria Provided
Conflicting Classifications

CA5547470

rs_202125074

7 SubmittersRCV000349589 RCV000350842 RCV000389048 RCV001044241 RCV002262951 RCV001833438 RCV002520627

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

SNV
Germline

Chr10:71819850

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547494

rs_138328594

3 SubmittersRCV000973449 RCV001103918 RCV001103919 RCV006441549

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547878

rs_141133813

3 SubmittersRCV000307686 RCV000361163 RCV000362343 RCV000895393 RCV006441552

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

Criteria Provided
Conflicting Classifications

CA5547484

rs_140066253

5 SubmittersRCV000301263 RCV000335258 RCV000390949 RCV000390963 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

2 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
not specified

Criteria Provided
Conflicting Classifications

CA5547853

rs_111369573

6 SubmittersRCV000300495 RCV000301590 RCV000355292 RCV000971779 RCV001672431 RCV006441551

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
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547418

rs_529719024

3 SubmittersRCV000267782 RCV000320675 RCV000377595 RCV000360171 RCV005702175

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

SNV
Germline

Chr10:71828020

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

CA5547688

rs_141199649

4 SubmittersRCV000354645 RCV000332576 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.409C>G (p.Leu137Val)

SNV
Germline

Chr10:71829044

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547774

rs_377027316

7 SubmittersRCV000484673 RCV001084808 RCV001272680 RCV001335064 RCV003902722

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.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_002778.4(PSAP):c.1146C>T (p.Cys382=)

SNV
Germline

Chr10:71819760

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
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547472

rs_573095617

3 SubmittersRCV000943827 RCV001107536 RCV001107537 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
Krabbe disease due to saposin A deficiency
Parkinson disease 24, autosomal dominant, susceptibility to
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_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

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

Criteria Provided
Conflicting Classifications

CA5547746

rs_188854022

3 SubmittersRCV001104309 RCV001104310 RCV001104312 RCV001104311 RCV003235470

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

SNV
Germline

Chr10:71829030

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547771

rs_780891597

3 SubmittersRCV001107070 RCV001107069 RCV001107067 RCV001107068 RCV006443721

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.1348C>T (p.Gln450Ter)

SNV
Germline

Chr10:71819467

Pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377142372

rs_1842248191

1 SubmittersRCV001212745

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.1432-3T>C

SNV
Germline

Chr10:71818727

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Sphingolipid activator protein 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547333

rs_200577646

3 SubmittersRCV001280262 RCV002537886 RCV006443798

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

SNV
Germline

Chr10:71819769

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5547474

rs_754680319

4 SubmittersRCV001280270 RCV002537887 RCV003481049 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

4 SubmittersRCV001280271 RCV001449850 RCV002541741

NM_002778.4(PSAP):c.1350+1G>A

SNV
Germline

Chr10:71819464

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377142345

rs_2133030537

1 SubmittersRCV001378136

NM_002778.4(PSAP):c.2T>G (p.Met1Arg)

SNV
Germline

Chr10:71851220

Pathogenic/Likely pathogenic

Sphingolipid activator protein 1 deficiency
Condition: not provided
Parkinson disease 24, autosomal dominant, susceptibility to

Criteria Provided
Multiple Submitters
No Conflicts

CA377159646

rs_767713908

3 SubmittersRCV001389490 RCV005630941 RCV005860231

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

SNV
Germline

Chr10:71820239

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA209455674

rs_113365744

5 SubmittersRCV001801340 RCV002541348 RCV005040390 RCV004798930 RCV006251051

NM_002778.4(PSAP):c.576+1G>A

SNV
Germline

Chr10:71828876

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA209466523

rs_949729827

1 SubmittersRCV002038695

NM_002778.4(PSAP):c.1351-2A>G

SNV
Germline

Chr10:71819113

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377142288

rs_2133029725

1 SubmittersRCV001993817

NM_002778.4(PSAP):c.1262G>A (p.Arg421His)

SNV
Germline

Chr10:71819553

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547416

rs_774088864

2 SubmittersRCV001951820 RCV006362975

NM_002778.4(PSAP):c.1204C>T (p.Gln402Ter)

SNV
Germline

Chr10:71819611

Pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377143806

rs_2133031097

1 SubmittersRCV001950813

NM_002778.4(PSAP):c.375+1G>T

SNV
Germline

Chr10:71831125

Likely pathogenic

Sphingolipid activator protein 1 deficiency
Melanoma

Criteria Provided
Single Submitter

CA377153382

rs_2133047947

2 SubmittersRCV001975717 RCV005925413

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

SNV
Germline

Chr10:71825894

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377149663

rs_1842392331

1 SubmittersRCV001973402

NM_002778.4(PSAP):c.629C>A (p.Thr210Asn)

SNV
Germline

Chr10:71828105

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547712

rs_774029071

2 SubmittersRCV001939979 RCV005465597

NM_002778.4(PSAP):c.910-2A>G

SNV
Germline

Chr10:71820337

Likely pathogenic

Sphingolipid activator protein 1 deficiency
Hepatocellular carcinoma

Criteria Provided
Single Submitter

CA5547564

rs_779384030

2 SubmittersRCV001971771 RCV005925450

NM_002778.4(PSAP):c.889G>T (p.Glu297Ter)

SNV
Germline

Chr10:71821896

Pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA5547585

rs_765607332

1 SubmittersRCV001942173

NM_002778.4(PSAP):c.670G>T (p.Glu224Ter)

SNV
Germline

Chr10:71828064

Pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377151021

rs_2133043442

1 SubmittersRCV001934357

NM_002778.4(PSAP):c.721-13T>C

SNV
Germline

Chr10:71825906

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547676

rs_370875535

3 SubmittersRCV002193912 RCV003481262

NM_002778.4(PSAP):c.721T>G (p.Cys241Gly)

SNV
Germline

Chr10:71825893

Pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377149653

rs_1842392268

1 SubmittersRCV002291315

NM_002778.4(PSAP):c.49G>A (p.Gly17Ser)

SNV
Germline

Chr10:71834497

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547921

rs_374922455

2 SubmittersRCV002775702 RCV005704971

NM_002778.4(PSAP):c.457C>T (p.Gln153Ter)

SNV
Germline

Chr10:71828996

Pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377152413

rs_2494526165

1 SubmittersRCV002880738

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

SNV
Germline

Chr10:71820239

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA209455673

rs_113365744

1 SubmittersRCV002867700

NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln)

SNV
Germline

Chr10:71818637

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5547324

rs_149000433

3 SubmittersRCV002928022 RCV003883853

NM_002778.4(PSAP):c.593G>A (p.Cys198Tyr)

SNV
Germline

Chr10:71828141

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377151589

rs_2494523338

1 SubmittersRCV003154637

NM_002778.4(PSAP):c.688T>G (p.Cys230Gly)

SNV
Germline

Chr10:71828046

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377150798

rs_2494522736

1 SubmittersRCV003154638

NM_002778.4(PSAP):c.777+1G>A

SNV
Germline

Chr10:71825836

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377149089

rs_112041816

1 SubmittersRCV003514705

NM_002778.4(PSAP):c.778-2A>G

SNV
Germline

Chr10:71822009

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377148266

rs_111610925

1 SubmittersRCV003514816

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

SNV
Germline

Chr10:71834398

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA377155827

rs_2494541533

2 SubmittersRCV003516323 RCV005047689

NM_002778.4(PSAP):c.777+1G>T

SNV
Germline

Chr10:71825836

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377149087

rs_112041816

1 SubmittersRCV003515772

NM_002778.4(PSAP):c.375+2T>G

SNV
Germline

Chr10:71831124

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377153376

rs_2494532805

1 SubmittersRCV003516109

NM_002778.4(PSAP):c.720+1G>A

SNV
Germline

Chr10:71828013

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA209465624

rs_971589777

1 SubmittersRCV003627966

NM_002778.4(PSAP):c.1193-1G>C

SNV
Germline

Chr10:71819623

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377143842

rs_2494497146

1 SubmittersRCV003627972

NM_002778.4(PSAP):c.158G>A (p.Trp53Ter)

SNV
Germline

Chr10:71834388

Conflicting classifications of pathogenicity

Sphingolipid activator protein 1 deficiency
Neuromuscular disease

Criteria Provided
Conflicting Classifications

CA377155775

rs_2494541474

2 SubmittersRCV003628021 RCV004797646

NM_002778.4(PSAP):c.1066G>T (p.Glu356Ter)

SNV
Germline

Chr10:71819840

Pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377144688

rs_2494498245

1 SubmittersRCV003628471

NM_002778.4(PSAP):c.250-1G>C

SNV
Germline

Chr10:71831252

Likely pathogenic

Sphingolipid activator protein 1 deficiency

Criteria Provided
Single Submitter

CA377154085

rs_2494533554

1 SubmittersRCV003626263

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