Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001080.3(ALDH5A1):c.1343+1G>T	SNV Germline	Chr6:24528167	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362979155	rs_1561879380	2 SubmittersRCV000001420
NM_001080.3(ALDH5A1):c.727-3298G>A	SNV Germline	Chr6:24511869	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362970631	rs_1561872640	2 SubmittersRCV000001421
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)	SNV Germline	Chr6:24504871	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251757	rs_118203982	14 SubmittersRCV000001422 RCV000224440
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter)	SNV Germline	Chr6:24528057	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251759	rs_118203983	7 SubmittersRCV000001423 RCV002243613
NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)	SNV Germline	Chr6:24528049	Pathogenic/Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251762	rs_118203984	12 SubmittersRCV000001424 RCV001725927
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)	SNV Germline	Chr6:24515243	Pathogenic	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency Inborn genetic diseases ALDH5A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3656756	rs_375628463	10 SubmittersRCV000224315 RCV000524751 RCV001266933 RCV004745292
NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala)	SNV Germline	Chr6:24533525	Conflicting classifications of pathogenicity	Condition: not provided EEG abnormality Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656951	rs_142482046	4 SubmittersRCV000224179 RCV000678775 RCV001085262
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)	SNV Germline	Chr6:24520491	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency not specified Condition: not provided ALDH5A1-related disorder	Criteria Provided Conflicting Classifications	CA3656805	rs_115784602	10 SubmittersRCV000308455 RCV000363885 RCV000438651 RCV003920071
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)	SNV Germline	Chr6:24522859	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656852	rs_148188703	4 SubmittersRCV000303300 RCV001086195
NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile)	SNV Germline	Chr6:24503429	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656664	rs_148733464	3 SubmittersRCV000725437 RCV000702347
NM_001080.3(ALDH5A1):c.123G>A (p.Pro41=)	SNV Germline	Chr6:24495119	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA10604884	rs_886042931	2 SubmittersRCV000289497 RCV000818576
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)	SNV Germline	Chr6:24528021	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency ALDH5A1-related disorder	Criteria Provided Conflicting Classifications	CA3656880	rs_147358733	5 SubmittersRCV000309054 RCV001079528 RCV003957465
NM_001080.3(ALDH5A1):c.354+14G>A	SNV Germline	Chr6:24495364	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656586	rs_572861590	3 SubmittersRCV000271361 RCV000360471
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)	SNV Germline	Chr6:24532123	Conflicting classifications of pathogenicity	not specified Condition: not provided Succinate-semialdehyde dehydrogenase deficiency ALDH5A1-related disorder	Criteria Provided Conflicting Classifications	CA3656925	rs_144177566	7 SubmittersRCV000359989 RCV000439066 RCV001086066 RCV003909994
NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=)	SNV Germline	Chr6:24503412	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656661	rs_145208127	3 SubmittersRCV000390571 RCV001081110
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)	SNV Germline	Chr6:24495289	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656581	rs_535825137	5 SubmittersRCV000324480 RCV001555747
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His)	SNV Germline	Chr6:24503339	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656641	rs_773814880	5 SubmittersRCV000321024
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)	SNV Germline	Chr6:24503413	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656663	rs_768219929	10 SubmittersRCV003993939 RCV000622989 RCV000730082 RCV000371631
NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)	SNV Germline	Chr6:24504922	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656685	rs_760461822	2 SubmittersRCV000317049
NM_001080.3(ALDH5A1):c.1344-6T>C	SNV Germline	Chr6:24532113	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency not specified Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA3656923	rs_368212282	6 SubmittersRCV000304780 RCV000503263 RCV001252142 RCV001706589
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)	SNV Germline	Chr6:24533578	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3656957	rs_151294087	6 SubmittersRCV000426165 RCV000634927 RCV002524702 RCV002282135
NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg)	SNV Germline	Chr6:24503350	Pathogenic	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16604920	rs_72552281	3 SubmittersRCV000423242 RCV001064033
NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg)	SNV Germline	Chr6:24533701	Pathogenic	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3656974	rs_72552284	4 SubmittersRCV000489901 RCV001050829
NM_001080.3(ALDH5A1):c.355-4G>C	SNV Germline	Chr6:24502519	Conflicting classifications of pathogenicity	not specified Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656599	rs_775932045	2 SubmittersRCV000503063 RCV002060094
NM_001080.3(ALDH5A1):c.*7T>C	SNV Germline	Chr6:24533719	Conflicting classifications of pathogenicity	not specified Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656980	rs_199767765	3 SubmittersRCV000499872 RCV001151978 RCV001571825
NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe)	SNV Germline	Chr6:24495274	Pathogenic	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3656579	rs_765561257	5 SubmittersRCV000521746 RCV000700364
NM_001080.3(ALDH5A1):c.668G>A (p.Cys223Tyr)	SNV Germline	Chr6:24504927	Pathogenic	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA136128330	rs_72552282	2 SubmittersRCV000523906 RCV002509419
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)	SNV Germline	Chr6:24495009	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Seizure Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3656550	rs_200398000	6 SubmittersRCV000525342 RCV000678774 RCV001591209 RCV003987589
NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser)	SNV Germline	Chr6:24528103	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided ALDH5A1-related disorder not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3656896	rs_149793005	7 SubmittersRCV000557619 RCV000728020 RCV003962485 RCV001821523 RCV005582336
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)	SNV Germline	Chr6:24528034	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Inborn genetic diseases Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA3656882	rs_139719918	5 SubmittersRCV000542929 RCV002527707 RCV001249504 RCV001577126
NM_001080.3(ALDH5A1):c.610-2A>G	SNV Germline	Chr6:24504867	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362969963	rs_1301821497	4 SubmittersRCV000549195 RCV001266934 RCV001550369
NM_001080.3(ALDH5A1):c.188G>T (p.Ser63Ile)	SNV Germline	Chr6:24495184	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA136122190	rs_374908367	3 SubmittersRCV000593535 RCV001242870 RCV002531047
NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe)	SNV Germline	Chr6:24533633	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656965	rs_578023593	2 SubmittersRCV000634940
NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile)	SNV Germline	Chr6:24503366	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656650	rs_147439442	2 SubmittersRCV000634933 RCV001571727
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser)	SNV Germline	Chr6:24533582	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656958	rs_776978579	2 SubmittersRCV000634939
NM_001080.3(ALDH5A1):c.1343+1G>A	SNV Germline	Chr6:24528167	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA362979153	rs_1561879380	2 SubmittersRCV000714525
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)	SNV Germline	Chr6:24495179	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656577	rs_776791710	3 SubmittersRCV000731059 RCV001083102
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)	SNV Germline	Chr6:24495098	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency ALDH5A1-related disorder	Criteria Provided Conflicting Classifications	CA3656571	rs_779034609	4 SubmittersRCV000732361 RCV001445724 RCV003955466
NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)	SNV Germline	Chr6:24495028	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656557	rs_373315916	5 SubmittersRCV000733275 RCV004027057 RCV001366355
NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)	SNV Germline	Chr6:24515302	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA3656766	rs_373320785	6 SubmittersRCV000822136 RCV001252141 RCV001529714
NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)	SNV Germline	Chr6:24504910	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656683	rs_4646837	2 SubmittersRCV000951864
NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)	SNV Germline	Chr6:24503349	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656647	rs_372455508	2 SubmittersRCV000899463
NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)	SNV Germline	Chr6:24515271	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656764	rs_138912422	2 SubmittersRCV000904616
NM_001080.3(ALDH5A1):c.1045C>T (p.Gln349Ter)	SNV Germline	Chr6:24522797	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362975905	rs_1581819950	1 SubmittersRCV000991436
NM_001080.3(ALDH5A1):c.1343+8C>T	SNV Germline	Chr6:24528174	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency ALDH5A1-related disorder	Criteria Provided Conflicting Classifications	CA3656910	rs_775916984	3 SubmittersRCV000998542 RCV003600396 RCV003898021
NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly)	SNV Germline	Chr6:24495075	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA136122133	rs_779798309	2 SubmittersRCV001051928 RCV001558448
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser)	SNV Germline	Chr6:24515204	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656745	rs_145087265	4 SubmittersRCV001035617 RCV004792636
NM_001080.3(ALDH5A1):c.1402+1G>A	SNV Germline	Chr6:24532178	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA3656934	rs_762290992	2 SubmittersRCV001040458
NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr)	SNV Germline	Chr6:24504968	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656701	rs_62621664	3 SubmittersRCV001153134 RCV004792744
NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)	SNV Germline	Chr6:24520454	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656796	rs_188108571	2 SubmittersRCV001155740
NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)	SNV Germline	Chr6:24528143	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656903	rs_771829991	2 SubmittersRCV001157447
NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)	SNV Germline	Chr6:24532149	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656930	rs_775722631	2 SubmittersRCV001157448
NM_001080.3(ALDH5A1):c.727-13T>G	SNV Germline	Chr6:24515154	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656736	rs_187404409	3 SubmittersRCV001153135 RCV003236870
NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala)	SNV Germline	Chr6:24515299	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656765	rs_369156704	2 SubmittersRCV001220446 RCV002274155
NM_001080.3(ALDH5A1):c.335G>A (p.Trp112Ter)	SNV Germline	Chr6:24495331	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362968707	rs_1764675949	1 SubmittersRCV001207776
NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter)	SNV Germline	Chr6:24502565	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA3656609	rs_758087862	1 SubmittersRCV001209579
NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys)	SNV Germline	Chr6:24504950	Pathogenic/Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided ALDH5A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA3656693	rs_751888532	4 SubmittersRCV001202475 RCV003159187 RCV003396822
NM_001080.3(ALDH5A1):c.1015-2A>C	SNV Germline	Chr6:24522765	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3656837	rs_769111673	4 SubmittersRCV001233016 RCV005250157
NM_001080.3(ALDH5A1):c.1402+1G>T	SNV Germline	Chr6:24532178	Pathogenic/Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency See cases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA362966977	rs_762290992	8 SubmittersRCV001264821 RCV002287488 RCV001726474
NM_001080.3(ALDH5A1):c.321G>A (p.Glu107=)	SNV Germline	Chr6:24495317	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	No Assertion Criteria Provided	CA448958157	rs_1764675543	1 SubmittersRCV001283754
NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser)	SNV Germline	Chr6:24528147	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA136139451	rs_750638943	3 SubmittersRCV001312550 RCV005094386
NM_001080.3(ALDH5A1):c.318C>G (p.Tyr106Ter)	SNV Germline	Chr6:24495314	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362968669	rs_985818920	1 SubmittersRCV001383086
NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter)	SNV Germline	Chr6:24515294	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362972132	rs_2127385894	1 SubmittersRCV001383176
NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter)	SNV Germline	Chr6:24533644	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA362967720	rs_748170674	2 SubmittersRCV001380780
NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp)	SNV Germline	Chr6:24495018	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656555	rs_767601869	2 SubmittersRCV001415778 RCV001762674
NM_001080.3(ALDH5A1):c.496T>C (p.Trp166Arg)	SNV Germline	Chr6:24503320	Conflicting classifications of pathogenicity	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA362969511	rs_2127382426	2 SubmittersRCV001727347 RCV002509690
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)	SNV Germline	Chr6:24503432	Pathogenic/Likely pathogenic	not specified Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA136127836	rs_906284769	5 SubmittersRCV001815110 RCV001885302 RCV002307765
NM_001080.3(ALDH5A1):c.1015-3C>G	SNV Germline	Chr6:24522764	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA2573140167	rs_2127387935	4 SubmittersRCV002019004 RCV002221695
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)	SNV Germline	Chr6:24504951	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA3656694	rs_757605946	3 SubmittersRCV001984196 RCV003481240
NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter)	SNV Germline	Chr6:24495348	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362968748	rs_2127379151	1 SubmittersRCV002037648
NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr)	SNV Germline	Chr6:24533696	Pathogenic/Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA136113856	rs_953870735	2 SubmittersRCV001910470
NM_001080.3(ALDH5A1):c.1015-1G>C	SNV Germline	Chr6:24522766	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362975697	rs_2127387936	1 SubmittersRCV002000028
NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter)	SNV Germline	Chr6:24533680	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362967891	rs_1421988285	1 SubmittersRCV002032915
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu)	SNV Germline	Chr6:24533602	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA136113769	rs_999671766	3 SubmittersRCV001903565 RCV004719196
NM_001080.3(ALDH5A1):c.581C>T (p.Pro194Leu)	SNV Germline	Chr6:24503405	Likely pathogenic	Condition: not provided Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA362969685	rs_1759249344	2 SubmittersRCV002244469 RCV002509760
NM_001080.3(ALDH5A1):c.438+1G>A	SNV Germline	Chr6:24502607	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969354	rs_2532831083	1 SubmittersRCV003037140
NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)	SNV Germline	Chr6:24504926	Pathogenic/Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA362970091	rs_1380589911	3 SubmittersRCV002510251 RCV002571583
NM_001080.3(ALDH5A1):c.698C>T (p.Thr233Met)	SNV Germline	Chr6:24504957	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA362970158	rs_1326526453	3 SubmittersRCV002510252
NM_001080.3(ALDH5A1):c.354G>C (p.Lys118Asn)	SNV Germline	Chr6:24495350	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362968752	rs_1444826704	1 SubmittersRCV002510490
NM_001080.3(ALDH5A1):c.371T>G (p.Leu124Arg)	SNV Germline	Chr6:24502539	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969052	rs_2532830876	1 SubmittersRCV002510491
NM_001080.3(ALDH5A1):c.384C>G (p.Tyr128Ter)	SNV Germline	Chr6:24502552	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969110	rs_2532830956	1 SubmittersRCV002510493
NM_001080.3(ALDH5A1):c.412C>T (p.Leu138Phe)	SNV Germline	Chr6:24502580	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969243	rs_2532831031	1 SubmittersRCV002510494
NM_001080.3(ALDH5A1):c.416C>A (p.Ala139Asp)	SNV Germline	Chr6:24502584	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969257	rs_1759220347	1 SubmittersRCV002510495
NM_001080.3(ALDH5A1):c.431C>A (p.Ala144Asp)	SNV Germline	Chr6:24502599	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969322	rs_1489666051	1 SubmittersRCV002510496
NM_001080.3(ALDH5A1):c.466G>A (p.Glu156Lys)	SNV Germline	Chr6:24503290	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969447	rs_2532832446	1 SubmittersRCV002510500
NM_001080.3(ALDH5A1):c.517C>T (p.Arg173Cys)	SNV Germline	Chr6:24503341	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA3656642	rs_759155182	1 SubmittersRCV002510501
NM_001080.3(ALDH5A1):c.527G>A (p.Gly176Glu)	SNV Germline	Chr6:24503351	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969574	rs_2532832592	1 SubmittersRCV002510502
NM_001080.3(ALDH5A1):c.536T>A (p.Ile179Asn)	SNV Germline	Chr6:24503360	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969594	rs_2532832625	1 SubmittersRCV002510503
NM_001080.3(ALDH5A1):c.559C>G (p.Arg187Gly)	SNV Germline	Chr6:24503383	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969641	rs_370988709	1 SubmittersRCV002510504
NM_001080.3(ALDH5A1):c.574A>T (p.Lys192Ter)	SNV Germline	Chr6:24503398	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969667	rs_2532832783	1 SubmittersRCV002510506
NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)	SNV Germline	Chr6:24503411	Pathogenic/Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA362969693	rs_769411080	2 SubmittersRCV002510507
NM_001080.3(ALDH5A1):c.608C>G (p.Pro203Arg)	SNV Germline	Chr6:24503432	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969733	rs_906284769	1 SubmittersRCV002510508
NM_001080.3(ALDH5A1):c.620C>T (p.Pro207Leu)	SNV Germline	Chr6:24504879	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362970001	rs_2532835598	1 SubmittersRCV002510511
NM_001080.3(ALDH5A1):c.622A>C (p.Ser208Arg)	SNV Germline	Chr6:24504881	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA3656680	rs_748783975	1 SubmittersRCV002510512
NM_001080.3(ALDH5A1):c.637C>G (p.Arg213Gly)	SNV Germline	Chr6:24504896	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362970036	rs_774041089	1 SubmittersRCV002510513
NM_001080.3(ALDH5A1):c.638G>T (p.Arg213Leu)	SNV Germline	Chr6:24504897	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362970038	rs_553257538	1 SubmittersRCV002510514
NM_001080.3(ALDH5A1):c.653C>A (p.Ala218Asp)	SNV Germline	Chr6:24504912	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362970065	rs_2532835685	1 SubmittersRCV002510515
NM_001080.3(ALDH5A1):c.685C>T (p.Pro229Ser)	SNV Germline	Chr6:24504944	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362970130	rs_1759309075	1 SubmittersRCV002510516
NM_001080.3(ALDH5A1):c.700C>T (p.Pro234Ser)	SNV Germline	Chr6:24504959	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362970161	rs_1386328721	1 SubmittersRCV002510517
NM_001080.3(ALDH5A1):c.754G>T (p.Gly252Cys)	SNV Germline	Chr6:24515194	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362971562	rs_2532854975	1 SubmittersRCV002510518
NM_001080.3(ALDH5A1):c.755G>T (p.Gly252Val)	SNV Germline	Chr6:24515195	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA362971567	rs_976950675	2 SubmittersRCV002510519
NM_001080.3(ALDH5A1):c.763A>G (p.Asn255Asp)	SNV Germline	Chr6:24515203	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362971605	rs_2127385854	1 SubmittersRCV002510520
NM_001080.3(ALDH5A1):c.781C>T (p.Arg261Ter)	SNV Germline	Chr6:24515221	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA3656747	rs_774496720	2 SubmittersRCV002510521 RCV002571600
NM_001080.3(ALDH5A1):c.800T>G (p.Val267Gly)	SNV Germline	Chr6:24515240	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362971832	rs_2532855130	1 SubmittersRCV002510522
NM_001080.3(ALDH5A1):c.851G>A (p.Gly284Asp)	SNV Germline	Chr6:24515291	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362972116	rs_2532855253	1 SubmittersRCV002510524
NM_001080.3(ALDH5A1):c.901A>G (p.Lys301Glu)	SNV Germline	Chr6:24520431	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362974067	rs_2532863262	1 SubmittersRCV002510525
NM_001080.3(ALDH5A1):c.916G>A (p.Glu306Lys)	SNV Germline	Chr6:24520446	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362974133	rs_2532863292	1 SubmittersRCV002510526
NM_001080.3(ALDH5A1):c.1005C>A (p.Asn335Lys)	SNV Germline	Chr6:24520535	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA136134666	rs_72552283	1 SubmittersRCV002510527
NM_001080.3(ALDH5A1):c.235C>T (p.Gln79Ter)	SNV Germline	Chr6:24495231	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362968497	rs_2532812482	1 SubmittersRCV002510528
NM_001080.3(ALDH5A1):c.1145C>A (p.Pro382Gln)	SNV Germline	Chr6:24522897	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362976566	rs_2532868391	1 SubmittersRCV002510529
NM_001080.3(ALDH5A1):c.1145C>T (p.Pro382Leu)	SNV Germline	Chr6:24522897	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362976570	rs_2532868391	1 SubmittersRCV002510530
NM_001080.3(ALDH5A1):c.1257C>A (p.Phe419Leu)	SNV Germline	Chr6:24528080	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA3656891	rs_765595608	1 SubmittersRCV002510532
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)	SNV Germline	Chr6:24528090	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA362978548	rs_1759856050	2 SubmittersRCV002510533
NM_001080.3(ALDH5A1):c.1267A>T (p.Thr423Ser)	SNV Germline	Chr6:24528090	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362978555	rs_1759856050	1 SubmittersRCV002510534
NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)	SNV Germline	Chr6:24528097	Pathogenic/Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA362978594	rs_2532877266	2 SubmittersRCV002510535
NM_001080.3(ALDH5A1):c.1294A>C (p.Met432Leu)	SNV Germline	Chr6:24528117	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362978728	rs_1561879315	1 SubmittersRCV002510536
NM_001080.3(ALDH5A1):c.275A>G (p.Asp92Gly)	SNV Germline	Chr6:24495271	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362968581	rs_2532812773	1 SubmittersRCV002510537
NM_001080.3(ALDH5A1):c.1429C>T (p.Gln477Ter)	SNV Germline	Chr6:24533533	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362967432	rs_1759976661	1 SubmittersRCV002510539
NM_001080.3(ALDH5A1):c.1460T>A (p.Val487Glu)	SNV Germline	Chr6:24533564	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362967501	rs_1581827709	1 SubmittersRCV002510540
NM_001080.3(ALDH5A1):c.277T>C (p.Cys93Arg)	SNV Germline	Chr6:24495273	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362968586	rs_1581800912	1 SubmittersRCV002510541
NM_001080.3(ALDH5A1):c.1459G>C (p.Val487Leu)	SNV Germline	Chr6:24533563	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362967498	rs_2532889084	1 SubmittersRCV002510542
NM_001080.3(ALDH5A1):c.1508C>G (p.Pro503Arg)	SNV Germline	Chr6:24533612	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362967602	rs_2532889271	1 SubmittersRCV002510544
NM_001080.3(ALDH5A1):c.1557T>G (p.Tyr519Ter)	SNV Germline	Chr6:24533661	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362967799	rs_2532889437	1 SubmittersRCV002510545
NM_001080.3(ALDH5A1):c.1547G>A (p.Gly516Glu)	SNV Germline	Chr6:24533651	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362967754	rs_1561881357	1 SubmittersRCV002510546
NM_001080.3(ALDH5A1):c.1321G>A (p.Gly441Arg)	SNV Germline	Chr6:24528144	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA136139450	rs_1041467895	2 SubmittersRCV002510547
NM_001080.3(ALDH5A1):c.637C>T (p.Arg213Trp)	SNV Germline	Chr6:24504896	Conflicting classifications of pathogenicity	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Conflicting Classifications	CA3656681	rs_774041089	4 SubmittersRCV002658731
NM_001080.3(ALDH5A1):c.870+1G>T	SNV Germline	Chr6:24515311	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362972203	rs_1402222766	1 SubmittersRCV003134986
NM_001080.3(ALDH5A1):c.762C>G (p.Tyr254Ter)	SNV Germline	Chr6:24515202	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362971604	rs_2532854998	1 SubmittersRCV003236690
NM_001080.3(ALDH5A1):c.1173+1G>T	SNV Germline	Chr6:24522926	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362976710	rs_2532868452	1 SubmittersRCV003495411
NM_001080.3(ALDH5A1):c.1402+2T>C	SNV Germline	Chr6:24532179	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA136113084	rs_746095345	1 SubmittersRCV003600477
NM_001080.3(ALDH5A1):c.668G>C (p.Cys223Ser)	SNV Germline	Chr6:24504927	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362970094	rs_72552282	1 SubmittersRCV003990614
NM_001080.3(ALDH5A1):c.380G>A (p.Trp127Ter)	SNV Germline	Chr6:24502548	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362969088	rs_2532830915	1 SubmittersRCV004555421
NM_001080.3(ALDH5A1):c.1558G>C (p.Gly520Arg)	SNV Germline	Chr6:24533662	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter	CA362967803	rs_1179619995	1 SubmittersRCV004555423
NM_001080.3(ALDH5A1):c.355-2A>G	SNV Germline	Chr6:24502521	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005039634
NM_001080.3(ALDH5A1):c.1183C>T (p.Gln395Ter)	SNV Germline	Chr6:24528006	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005133051
NM_001080.3(ALDH5A1):c.762C>A (p.Tyr254Ter)	SNV Germline	Chr6:24515202	Pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005201918
NM_001080.3(ALDH5A1):c.1475T>A (p.Val492Asp)	SNV Unknown	Chr6:24533579	Likely pathogenic	Succinate-semialdehyde dehydrogenase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005402302

NM_001080.3(ALDH5A1):c.1343+1G>T

SNV
Germline

Chr6:24528167

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362979155

rs_1561879380

2 SubmittersRCV000001420

NM_001080.3(ALDH5A1):c.727-3298G>A

SNV
Germline

Chr6:24511869

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362970631

rs_1561872640

2 SubmittersRCV000001421

NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)

SNV
Germline

Chr6:24504871

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251757

rs_118203982

14 SubmittersRCV000001422 RCV000224440

NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter)

SNV
Germline

Chr6:24528057

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251759

rs_118203983

7 SubmittersRCV000001423 RCV002243613

NM_001080.3(ALDH5A1):c.1226G>A (p.Gly409Asp)

SNV
Germline

Chr6:24528049

Pathogenic/Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251762

rs_118203984

12 SubmittersRCV000001424 RCV001725927

NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)

SNV
Germline

Chr6:24515243

Pathogenic

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency
Inborn genetic diseases
ALDH5A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3656756

rs_375628463

10 SubmittersRCV000224315 RCV000524751 RCV001266933 RCV004745292

NM_001080.3(ALDH5A1):c.1421A>C (p.Asp474Ala)

SNV
Germline

Chr6:24533525

Conflicting classifications of pathogenicity

Condition: not provided
EEG abnormality
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656951

rs_142482046

4 SubmittersRCV000224179 RCV000678775 RCV001085262

NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met)

SNV
Germline

Chr6:24520491

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
not specified
Condition: not provided
ALDH5A1-related disorder

Criteria Provided
Conflicting Classifications

CA3656805

rs_115784602

10 SubmittersRCV000308455 RCV000363885 RCV000438651 RCV003920071

NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=)

SNV
Germline

Chr6:24522859

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656852

rs_148188703

4 SubmittersRCV000303300 RCV001086195

NM_001080.3(ALDH5A1):c.605C>T (p.Thr202Ile)

SNV
Germline

Chr6:24503429

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656664

rs_148733464

3 SubmittersRCV000725437 RCV000702347

NM_001080.3(ALDH5A1):c.123G>A (p.Pro41=)

SNV
Germline

Chr6:24495119

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA10604884

rs_886042931

2 SubmittersRCV000289497 RCV000818576

NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)

SNV
Germline

Chr6:24528021

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency
ALDH5A1-related disorder

Criteria Provided
Conflicting Classifications

CA3656880

rs_147358733

5 SubmittersRCV000309054 RCV001079528 RCV003957465

NM_001080.3(ALDH5A1):c.354+14G>A

SNV
Germline

Chr6:24495364

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656586

rs_572861590

3 SubmittersRCV000271361 RCV000360471

NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn)

SNV
Germline

Chr6:24532123

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency
ALDH5A1-related disorder

Criteria Provided
Conflicting Classifications

CA3656925

rs_144177566

7 SubmittersRCV000359989 RCV000439066 RCV001086066 RCV003909994

NM_001080.3(ALDH5A1):c.588C>T (p.Gly196=)

SNV
Germline

Chr6:24503412

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656661

rs_145208127

3 SubmittersRCV000390571 RCV001081110

NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly)

SNV
Germline

Chr6:24495289

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656581

rs_535825137

5 SubmittersRCV000324480 RCV001555747

NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His)

SNV
Germline

Chr6:24503339

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656641

rs_773814880

5 SubmittersRCV000321024

NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met)

SNV
Germline

Chr6:24503413

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656663

rs_768219929

10 SubmittersRCV003993939 RCV000622989 RCV000730082 RCV000371631

NM_001080.3(ALDH5A1):c.663C>T (p.Ala221=)

SNV
Germline

Chr6:24504922

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656685

rs_760461822

2 SubmittersRCV000317049

NM_001080.3(ALDH5A1):c.1344-6T>C

SNV
Germline

Chr6:24532113

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
not specified
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656923

rs_368212282

6 SubmittersRCV000304780 RCV000503263 RCV001252142 RCV001706589

NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile)

SNV
Germline

Chr6:24533578

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3656957

rs_151294087

6 SubmittersRCV000426165 RCV000634927 RCV002524702 RCV002282135

NM_001080.3(ALDH5A1):c.526G>A (p.Gly176Arg)

SNV
Germline

Chr6:24503350

Pathogenic

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16604920

rs_72552281

3 SubmittersRCV000423242 RCV001064033

NM_001080.3(ALDH5A1):c.1597G>A (p.Gly533Arg)

SNV
Germline

Chr6:24533701

Pathogenic

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3656974

rs_72552284

4 SubmittersRCV000489901 RCV001050829

NM_001080.3(ALDH5A1):c.355-4G>C

SNV
Germline

Chr6:24502519

Conflicting classifications of pathogenicity

not specified
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656599

rs_775932045

2 SubmittersRCV000503063 RCV002060094

NM_001080.3(ALDH5A1):c.*7T>C

SNV
Germline

Chr6:24533719

Conflicting classifications of pathogenicity

not specified
Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656980

rs_199767765

3 SubmittersRCV000499872 RCV001151978 RCV001571825

NM_001080.3(ALDH5A1):c.278G>T (p.Cys93Phe)

SNV
Germline

Chr6:24495274

Pathogenic

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3656579

rs_765561257

5 SubmittersRCV000521746 RCV000700364

NM_001080.3(ALDH5A1):c.668G>A (p.Cys223Tyr)

SNV
Germline

Chr6:24504927

Pathogenic

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA136128330

rs_72552282

2 SubmittersRCV000523906 RCV002509419

NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val)

SNV
Germline

Chr6:24495009

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Seizure
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3656550

rs_200398000

6 SubmittersRCV000525342 RCV000678774 RCV001591209 RCV003987589

NM_001080.3(ALDH5A1):c.1280A>G (p.Asn427Ser)

SNV
Germline

Chr6:24528103

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided
ALDH5A1-related disorder
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3656896

rs_149793005

7 SubmittersRCV000557619 RCV000728020 RCV003962485 RCV001821523 RCV005582336

NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)

SNV
Germline

Chr6:24528034

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Inborn genetic diseases
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656882

rs_139719918

5 SubmittersRCV000542929 RCV002527707 RCV001249504 RCV001577126

NM_001080.3(ALDH5A1):c.610-2A>G

SNV
Germline

Chr6:24504867

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362969963

rs_1301821497

4 SubmittersRCV000549195 RCV001266934 RCV001550369

NM_001080.3(ALDH5A1):c.188G>T (p.Ser63Ile)

SNV
Germline

Chr6:24495184

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA136122190

rs_374908367

3 SubmittersRCV000593535 RCV001242870 RCV002531047

NM_001080.3(ALDH5A1):c.1529C>T (p.Ser510Phe)

SNV
Germline

Chr6:24533633

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656965

rs_578023593

2 SubmittersRCV000634940

NM_001080.3(ALDH5A1):c.542C>T (p.Thr181Ile)

SNV
Germline

Chr6:24503366

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656650

rs_147439442

2 SubmittersRCV000634933 RCV001571727

NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser)

SNV
Germline

Chr6:24533582

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656958

rs_776978579

2 SubmittersRCV000634939

NM_001080.3(ALDH5A1):c.1343+1G>A

SNV
Germline

Chr6:24528167

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA362979153

rs_1561879380

2 SubmittersRCV000714525

NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=)

SNV
Germline

Chr6:24495179

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656577

rs_776791710

3 SubmittersRCV000731059 RCV001083102

NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=)

SNV
Germline

Chr6:24495098

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency
ALDH5A1-related disorder

Criteria Provided
Conflicting Classifications

CA3656571

rs_779034609

4 SubmittersRCV000732361 RCV001445724 RCV003955466

NM_001080.3(ALDH5A1):c.32G>A (p.Gly11Glu)

SNV
Germline

Chr6:24495028

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656557

rs_373315916

5 SubmittersRCV000733275 RCV004027057 RCV001366355

NM_001080.3(ALDH5A1):c.862A>G (p.Thr288Ala)

SNV
Germline

Chr6:24515302

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656766

rs_373320785

6 SubmittersRCV000822136 RCV001252141 RCV001529714

NM_001080.3(ALDH5A1):c.651C>T (p.Ala217=)

SNV
Germline

Chr6:24504910

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656683

rs_4646837

2 SubmittersRCV000951864

NM_001080.3(ALDH5A1):c.525C>T (p.Tyr175=)

SNV
Germline

Chr6:24503349

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656647

rs_372455508

2 SubmittersRCV000899463

NM_001080.3(ALDH5A1):c.831G>A (p.Val277=)

SNV
Germline

Chr6:24515271

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656764

rs_138912422

2 SubmittersRCV000904616

NM_001080.3(ALDH5A1):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr6:24522797

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362975905

rs_1581819950

1 SubmittersRCV000991436

NM_001080.3(ALDH5A1):c.1343+8C>T

SNV
Germline

Chr6:24528174

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency
ALDH5A1-related disorder

Criteria Provided
Conflicting Classifications

CA3656910

rs_775916984

3 SubmittersRCV000998542 RCV003600396 RCV003898021

NM_001080.3(ALDH5A1):c.79C>G (p.Arg27Gly)

SNV
Germline

Chr6:24495075

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA136122133

rs_779798309

2 SubmittersRCV001051928 RCV001558448

NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser)

SNV
Germline

Chr6:24515204

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656745

rs_145087265

4 SubmittersRCV001035617 RCV004792636

NM_001080.3(ALDH5A1):c.1402+1G>A

SNV
Germline

Chr6:24532178

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA3656934

rs_762290992

2 SubmittersRCV001040458

NM_001080.3(ALDH5A1):c.709G>A (p.Ala237Thr)

SNV
Germline

Chr6:24504968

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656701

rs_62621664

3 SubmittersRCV001153134 RCV004792744

NM_001080.3(ALDH5A1):c.924C>T (p.Gly308=)

SNV
Germline

Chr6:24520454

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656796

rs_188108571

2 SubmittersRCV001155740

NM_001080.3(ALDH5A1):c.1320C>T (p.Phe440=)

SNV
Germline

Chr6:24528143

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656903

rs_771829991

2 SubmittersRCV001157447

NM_001080.3(ALDH5A1):c.1374C>T (p.Ile458=)

SNV
Germline

Chr6:24532149

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656930

rs_775722631

2 SubmittersRCV001157448

NM_001080.3(ALDH5A1):c.727-13T>G

SNV
Germline

Chr6:24515154

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656736

rs_187404409

3 SubmittersRCV001153135 RCV003236870

NM_001080.3(ALDH5A1):c.859A>G (p.Thr287Ala)

SNV
Germline

Chr6:24515299

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656765

rs_369156704

2 SubmittersRCV001220446 RCV002274155

NM_001080.3(ALDH5A1):c.335G>A (p.Trp112Ter)

SNV
Germline

Chr6:24495331

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362968707

rs_1764675949

1 SubmittersRCV001207776

NM_001080.3(ALDH5A1):c.397C>T (p.Gln133Ter)

SNV
Germline

Chr6:24502565

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3656609

rs_758087862

1 SubmittersRCV001209579

NM_001080.3(ALDH5A1):c.691G>A (p.Glu231Lys)

SNV
Germline

Chr6:24504950

Pathogenic/Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided
ALDH5A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA3656693

rs_751888532

4 SubmittersRCV001202475 RCV003159187 RCV003396822

NM_001080.3(ALDH5A1):c.1015-2A>C

SNV
Germline

Chr6:24522765

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3656837

rs_769111673

4 SubmittersRCV001233016 RCV005250157

NM_001080.3(ALDH5A1):c.1402+1G>T

SNV
Germline

Chr6:24532178

Pathogenic/Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency
See cases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA362966977

rs_762290992

8 SubmittersRCV001264821 RCV002287488 RCV001726474

NM_001080.3(ALDH5A1):c.321G>A (p.Glu107=)

SNV
Germline

Chr6:24495317

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

No Assertion Criteria Provided

CA448958157

rs_1764675543

1 SubmittersRCV001283754

NM_001080.3(ALDH5A1):c.1324C>T (p.Pro442Ser)

SNV
Germline

Chr6:24528147

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA136139451

rs_750638943

3 SubmittersRCV001312550 RCV005094386

NM_001080.3(ALDH5A1):c.318C>G (p.Tyr106Ter)

SNV
Germline

Chr6:24495314

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362968669

rs_985818920

1 SubmittersRCV001383086

NM_001080.3(ALDH5A1):c.854C>G (p.Ser285Ter)

SNV
Germline

Chr6:24515294

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362972132

rs_2127385894

1 SubmittersRCV001383176

NM_001080.3(ALDH5A1):c.1540C>T (p.Arg514Ter)

SNV
Germline

Chr6:24533644

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA362967720

rs_748170674

2 SubmittersRCV001380780

NM_001080.3(ALDH5A1):c.22C>T (p.Arg8Trp)

SNV
Germline

Chr6:24495018

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656555

rs_767601869

2 SubmittersRCV001415778 RCV001762674

NM_001080.3(ALDH5A1):c.496T>C (p.Trp166Arg)

SNV
Germline

Chr6:24503320

Conflicting classifications of pathogenicity

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA362969511

rs_2127382426

2 SubmittersRCV001727347 RCV002509690

NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu)

SNV
Germline

Chr6:24503432

Pathogenic/Likely pathogenic

not specified
Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA136127836

rs_906284769

5 SubmittersRCV001815110 RCV001885302 RCV002307765

NM_001080.3(ALDH5A1):c.1015-3C>G

SNV
Germline

Chr6:24522764

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573140167

rs_2127387935

4 SubmittersRCV002019004 RCV002221695

NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly)

SNV
Germline

Chr6:24504951

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3656694

rs_757605946

3 SubmittersRCV001984196 RCV003481240

NM_001080.3(ALDH5A1):c.352A>T (p.Lys118Ter)

SNV
Germline

Chr6:24495348

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362968748

rs_2127379151

1 SubmittersRCV002037648

NM_001080.3(ALDH5A1):c.1592G>A (p.Cys531Tyr)

SNV
Germline

Chr6:24533696

Pathogenic/Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA136113856

rs_953870735

2 SubmittersRCV001910470

NM_001080.3(ALDH5A1):c.1015-1G>C

SNV
Germline

Chr6:24522766

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362975697

rs_2127387936

1 SubmittersRCV002000028

NM_001080.3(ALDH5A1):c.1576G>T (p.Glu526Ter)

SNV
Germline

Chr6:24533680

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362967891

rs_1421988285

1 SubmittersRCV002032915

NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu)

SNV
Germline

Chr6:24533602

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA136113769

rs_999671766

3 SubmittersRCV001903565 RCV004719196

NM_001080.3(ALDH5A1):c.581C>T (p.Pro194Leu)

SNV
Germline

Chr6:24503405

Likely pathogenic

Condition: not provided
Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA362969685

rs_1759249344

2 SubmittersRCV002244469 RCV002509760

NM_001080.3(ALDH5A1):c.438+1G>A

SNV
Germline

Chr6:24502607

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969354

rs_2532831083

1 SubmittersRCV003037140

NM_001080.3(ALDH5A1):c.667T>C (p.Cys223Arg)

SNV
Germline

Chr6:24504926

Pathogenic/Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA362970091

rs_1380589911

3 SubmittersRCV002510251 RCV002571583

NM_001080.3(ALDH5A1):c.698C>T (p.Thr233Met)

SNV
Germline

Chr6:24504957

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA362970158

rs_1326526453

3 SubmittersRCV002510252

NM_001080.3(ALDH5A1):c.354G>C (p.Lys118Asn)

SNV
Germline

Chr6:24495350

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362968752

rs_1444826704

1 SubmittersRCV002510490

NM_001080.3(ALDH5A1):c.371T>G (p.Leu124Arg)

SNV
Germline

Chr6:24502539

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969052

rs_2532830876

1 SubmittersRCV002510491

NM_001080.3(ALDH5A1):c.384C>G (p.Tyr128Ter)

SNV
Germline

Chr6:24502552

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969110

rs_2532830956

1 SubmittersRCV002510493

NM_001080.3(ALDH5A1):c.412C>T (p.Leu138Phe)

SNV
Germline

Chr6:24502580

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969243

rs_2532831031

1 SubmittersRCV002510494

NM_001080.3(ALDH5A1):c.416C>A (p.Ala139Asp)

SNV
Germline

Chr6:24502584

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969257

rs_1759220347

1 SubmittersRCV002510495

NM_001080.3(ALDH5A1):c.431C>A (p.Ala144Asp)

SNV
Germline

Chr6:24502599

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969322

rs_1489666051

1 SubmittersRCV002510496

NM_001080.3(ALDH5A1):c.466G>A (p.Glu156Lys)

SNV
Germline

Chr6:24503290

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969447

rs_2532832446

1 SubmittersRCV002510500

NM_001080.3(ALDH5A1):c.517C>T (p.Arg173Cys)

SNV
Germline

Chr6:24503341

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3656642

rs_759155182

1 SubmittersRCV002510501

NM_001080.3(ALDH5A1):c.527G>A (p.Gly176Glu)

SNV
Germline

Chr6:24503351

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969574

rs_2532832592

1 SubmittersRCV002510502

NM_001080.3(ALDH5A1):c.536T>A (p.Ile179Asn)

SNV
Germline

Chr6:24503360

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969594

rs_2532832625

1 SubmittersRCV002510503

NM_001080.3(ALDH5A1):c.559C>G (p.Arg187Gly)

SNV
Germline

Chr6:24503383

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969641

rs_370988709

1 SubmittersRCV002510504

NM_001080.3(ALDH5A1):c.574A>T (p.Lys192Ter)

SNV
Germline

Chr6:24503398

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969667

rs_2532832783

1 SubmittersRCV002510506

NM_001080.3(ALDH5A1):c.587G>A (p.Gly196Asp)

SNV
Germline

Chr6:24503411

Pathogenic/Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA362969693

rs_769411080

2 SubmittersRCV002510507

NM_001080.3(ALDH5A1):c.608C>G (p.Pro203Arg)

SNV
Germline

Chr6:24503432

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969733

rs_906284769

1 SubmittersRCV002510508

NM_001080.3(ALDH5A1):c.620C>T (p.Pro207Leu)

SNV
Germline

Chr6:24504879

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362970001

rs_2532835598

1 SubmittersRCV002510511

NM_001080.3(ALDH5A1):c.622A>C (p.Ser208Arg)

SNV
Germline

Chr6:24504881

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3656680

rs_748783975

1 SubmittersRCV002510512

NM_001080.3(ALDH5A1):c.637C>G (p.Arg213Gly)

SNV
Germline

Chr6:24504896

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362970036

rs_774041089

1 SubmittersRCV002510513

NM_001080.3(ALDH5A1):c.638G>T (p.Arg213Leu)

SNV
Germline

Chr6:24504897

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362970038

rs_553257538

1 SubmittersRCV002510514

NM_001080.3(ALDH5A1):c.653C>A (p.Ala218Asp)

SNV
Germline

Chr6:24504912

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362970065

rs_2532835685

1 SubmittersRCV002510515

NM_001080.3(ALDH5A1):c.685C>T (p.Pro229Ser)

SNV
Germline

Chr6:24504944

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362970130

rs_1759309075

1 SubmittersRCV002510516

NM_001080.3(ALDH5A1):c.700C>T (p.Pro234Ser)

SNV
Germline

Chr6:24504959

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362970161

rs_1386328721

1 SubmittersRCV002510517

NM_001080.3(ALDH5A1):c.754G>T (p.Gly252Cys)

SNV
Germline

Chr6:24515194

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362971562

rs_2532854975

1 SubmittersRCV002510518

NM_001080.3(ALDH5A1):c.755G>T (p.Gly252Val)

SNV
Germline

Chr6:24515195

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA362971567

rs_976950675

2 SubmittersRCV002510519

NM_001080.3(ALDH5A1):c.763A>G (p.Asn255Asp)

SNV
Germline

Chr6:24515203

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362971605

rs_2127385854

1 SubmittersRCV002510520

NM_001080.3(ALDH5A1):c.781C>T (p.Arg261Ter)

SNV
Germline

Chr6:24515221

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA3656747

rs_774496720

2 SubmittersRCV002510521 RCV002571600

NM_001080.3(ALDH5A1):c.800T>G (p.Val267Gly)

SNV
Germline

Chr6:24515240

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362971832

rs_2532855130

1 SubmittersRCV002510522

NM_001080.3(ALDH5A1):c.851G>A (p.Gly284Asp)

SNV
Germline

Chr6:24515291

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362972116

rs_2532855253

1 SubmittersRCV002510524

NM_001080.3(ALDH5A1):c.901A>G (p.Lys301Glu)

SNV
Germline

Chr6:24520431

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362974067

rs_2532863262

1 SubmittersRCV002510525

NM_001080.3(ALDH5A1):c.916G>A (p.Glu306Lys)

SNV
Germline

Chr6:24520446

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362974133

rs_2532863292

1 SubmittersRCV002510526

NM_001080.3(ALDH5A1):c.1005C>A (p.Asn335Lys)

SNV
Germline

Chr6:24520535

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA136134666

rs_72552283

1 SubmittersRCV002510527

NM_001080.3(ALDH5A1):c.235C>T (p.Gln79Ter)

SNV
Germline

Chr6:24495231

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362968497

rs_2532812482

1 SubmittersRCV002510528

NM_001080.3(ALDH5A1):c.1145C>A (p.Pro382Gln)

SNV
Germline

Chr6:24522897

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362976566

rs_2532868391

1 SubmittersRCV002510529

NM_001080.3(ALDH5A1):c.1145C>T (p.Pro382Leu)

SNV
Germline

Chr6:24522897

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362976570

rs_2532868391

1 SubmittersRCV002510530

NM_001080.3(ALDH5A1):c.1257C>A (p.Phe419Leu)

SNV
Germline

Chr6:24528080

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA3656891

rs_765595608

1 SubmittersRCV002510532

NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)

SNV
Germline

Chr6:24528090

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA362978548

rs_1759856050

2 SubmittersRCV002510533

NM_001080.3(ALDH5A1):c.1267A>T (p.Thr423Ser)

SNV
Germline

Chr6:24528090

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362978555

rs_1759856050

1 SubmittersRCV002510534

NM_001080.3(ALDH5A1):c.1274T>C (p.Leu425Pro)

SNV
Germline

Chr6:24528097

Pathogenic/Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA362978594

rs_2532877266

2 SubmittersRCV002510535

NM_001080.3(ALDH5A1):c.1294A>C (p.Met432Leu)

SNV
Germline

Chr6:24528117

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362978728

rs_1561879315

1 SubmittersRCV002510536

NM_001080.3(ALDH5A1):c.275A>G (p.Asp92Gly)

SNV
Germline

Chr6:24495271

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362968581

rs_2532812773

1 SubmittersRCV002510537

NM_001080.3(ALDH5A1):c.1429C>T (p.Gln477Ter)

SNV
Germline

Chr6:24533533

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362967432

rs_1759976661

1 SubmittersRCV002510539

NM_001080.3(ALDH5A1):c.1460T>A (p.Val487Glu)

SNV
Germline

Chr6:24533564

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362967501

rs_1581827709

1 SubmittersRCV002510540

NM_001080.3(ALDH5A1):c.277T>C (p.Cys93Arg)

SNV
Germline

Chr6:24495273

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362968586

rs_1581800912

1 SubmittersRCV002510541

NM_001080.3(ALDH5A1):c.1459G>C (p.Val487Leu)

SNV
Germline

Chr6:24533563

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362967498

rs_2532889084

1 SubmittersRCV002510542

NM_001080.3(ALDH5A1):c.1508C>G (p.Pro503Arg)

SNV
Germline

Chr6:24533612

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362967602

rs_2532889271

1 SubmittersRCV002510544

NM_001080.3(ALDH5A1):c.1557T>G (p.Tyr519Ter)

SNV
Germline

Chr6:24533661

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362967799

rs_2532889437

1 SubmittersRCV002510545

NM_001080.3(ALDH5A1):c.1547G>A (p.Gly516Glu)

SNV
Germline

Chr6:24533651

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362967754

rs_1561881357

1 SubmittersRCV002510546

NM_001080.3(ALDH5A1):c.1321G>A (p.Gly441Arg)

SNV
Germline

Chr6:24528144

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA136139450

rs_1041467895

2 SubmittersRCV002510547

NM_001080.3(ALDH5A1):c.637C>T (p.Arg213Trp)

SNV
Germline

Chr6:24504896

Conflicting classifications of pathogenicity

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Conflicting Classifications

CA3656681

rs_774041089

4 SubmittersRCV002658731

NM_001080.3(ALDH5A1):c.870+1G>T

SNV
Germline

Chr6:24515311

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362972203

rs_1402222766

1 SubmittersRCV003134986

NM_001080.3(ALDH5A1):c.762C>G (p.Tyr254Ter)

SNV
Germline

Chr6:24515202

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362971604

rs_2532854998

1 SubmittersRCV003236690

NM_001080.3(ALDH5A1):c.1173+1G>T

SNV
Germline

Chr6:24522926

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362976710

rs_2532868452

1 SubmittersRCV003495411

NM_001080.3(ALDH5A1):c.1402+2T>C

SNV
Germline

Chr6:24532179

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA136113084

rs_746095345

1 SubmittersRCV003600477

NM_001080.3(ALDH5A1):c.668G>C (p.Cys223Ser)

SNV
Germline

Chr6:24504927

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362970094

rs_72552282

1 SubmittersRCV003990614

NM_001080.3(ALDH5A1):c.380G>A (p.Trp127Ter)

SNV
Germline

Chr6:24502548

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362969088

rs_2532830915

1 SubmittersRCV004555421

NM_001080.3(ALDH5A1):c.1558G>C (p.Gly520Arg)

SNV
Germline

Chr6:24533662

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

CA362967803

rs_1179619995

1 SubmittersRCV004555423

NM_001080.3(ALDH5A1):c.355-2A>G

SNV
Germline

Chr6:24502521

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005039634

NM_001080.3(ALDH5A1):c.1183C>T (p.Gln395Ter)

SNV
Germline

Chr6:24528006

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005133051

NM_001080.3(ALDH5A1):c.762C>A (p.Tyr254Ter)

SNV
Germline

Chr6:24515202

Pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005201918

NM_001080.3(ALDH5A1):c.1475T>A (p.Val492Asp)

SNV
Unknown

Chr6:24533579

Likely pathogenic

Succinate-semialdehyde dehydrogenase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005402302