Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)	SNV Germline	ChrX:19359613	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA121205	rs_137853250	5 SubmittersRCV000011620 RCV001267918 RCV002251895
NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)	SNV Germline	ChrX:19355713	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA121213	rs_137853259	4 SubmittersRCV000011625 RCV000196576
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)	SNV Germline	ChrX:19358920	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided Inborn genetic diseases PDHA1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA121214	rs_137853252	9 SubmittersRCV000011626 RCV000199671 RCV000622696 RCV003407316
NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)	SNV Germline	ChrX:19355699	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA121216	rs_137853253	1 SubmittersRCV000011628
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	SNV Germline	ChrX:19355360	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA121217	rs_137853254	3 SubmittersRCV000011629
NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)	SNV Germline	ChrX:19355472	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA121218	rs_137853255	1 SubmittersRCV000011630
NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)	SNV Germline	ChrX:19358959	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Single Submitter	CA121219	rs_137853256	2 SubmittersRCV000011631 RCV001268860
NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)	SNV Germline	ChrX:19344066	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA121223	rs_137853257	1 SubmittersRCV000011634
NM_000284.4(PDHA1):c.863G>A (p.Arg288His)	SNV Germline	ChrX:19357683	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA121226	rs_137853258	2 SubmittersRCV000011637
NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)	SNV Germline	ChrX:19355393	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided	CA121228	rs_121917898	1 SubmittersRCV000011640
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)	SNV Germline	ChrX:19353146	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA220607	rs_398123300	5 SubmittersRCV000078557 RCV001218777
NM_000284.4(PDHA1):c.628A>G (p.Met210Val)	SNV Germline	ChrX:19355373	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA247055	rs_794727843	3 SubmittersRCV000179743 RCV002470795
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)	SNV Germline	ChrX:19353085	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA203852	rs_794729213	3 SubmittersRCV000184034
NM_000284.4(PDHA1):c.984T>C (p.Asn328=)	SNV Germline	ChrX:19359000	Conflicting classifications of pathogenicity	not specified Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA208258	rs_767503319	4 SubmittersRCV000194225 RCV000899471 RCV001833137 RCV002381655
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)	SNV Germline	ChrX:19350033	Likely pathogenic	Condition: not provided Inborn genetic diseases Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency Abnormality of the mitochondrion	Reviewed By Expert Panel	CA320653	rs_863224148	8 SubmittersRCV000505722 RCV000624128 RCV000692713 RCV001796727 RCV001814100
NM_000284.4(PDHA1):c.292-1G>A	SNV Germline	ChrX:19351280	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA323036	rs_863224149	2 SubmittersRCV000198524 RCV001853189
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)	SNV Germline	ChrX:19351368	Pathogenic/Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_199959402	6 SubmittersRCV001091314 RCV001731151
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)	SNV Germline	ChrX:19353169	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency	Reviewed By Expert Panel	CA323959	rs_863224150	4 SubmittersRCV000199416 RCV000640506 RCV001526400
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)	SNV Germline	ChrX:19358926	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency	Reviewed By Expert Panel	CA321113		4 SubmittersRCV000196688 RCV000760291 RCV001753598
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	SNV Germline	ChrX:19359612	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency SUDDEN INFANT DEATH SYNDROME Pyruvate dehydrogenase complex deficiency	Reviewed By Expert Panel	CA323094	rs_863224147	7 SubmittersRCV000198575 RCV000497402 RCV001788065 RCV001796726
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)	SNV Germline	ChrX:19359639	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA325044	rs_201156613	3 SubmittersRCV000200467 RCV001079335 RCV002363013
NM_000284.4(PDHA1):c.507G>A (p.Ala169=)	SNV Germline	ChrX:19353170	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency Inborn genetic diseases PDHA1-related disorder	Criteria Provided Conflicting Classifications	CA10363043	rs_141862527	6 SubmittersRCV000725565 RCV001088476 RCV001835752 RCV002338844 RCV003920086
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)	SNV Germline	ChrX:19359525	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA10607080	rs_886044701	2 SubmittersRCV000407596 RCV003225059
NM_000284.4(PDHA1):c.292-23A>G	SNV Germline	ChrX:19351258	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA16043723	rs_1057518702	2 SubmittersRCV000415131
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)	SNV Germline	ChrX:19357652	Pathogenic/Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16608805	rs_1057521993	2 SubmittersRCV000427505 RCV001250113
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)	SNV Germline	ChrX:19358921	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16621292	rs_1064794149	4 SubmittersRCV000481593 RCV001216859
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)	SNV Unknown	ChrX:19353124	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393238	rs_1131692230	1 SubmittersRCV000495894
NM_000284.4(PDHA1):c.738C>T (p.Gly246=)	SNV Germline	ChrX:19355483	Pathogenic/Likely pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts	CA515486060	rs_1555934379	2 SubmittersRCV000498403 RCV000995830
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)	SNV Germline	ChrX:19351395	Conflicting classifications of pathogenicity	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications	CA10363031	rs_138727886	2 SubmittersRCV000513883 RCV001082627
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)	SNV Germline	ChrX:19353118	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393200	rs_1555933954	1 SubmittersRCV000578270
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)	SNV Germline	ChrX:19353154	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided Pyruvate dehydrogenase complex deficiency	Criteria Provided Conflicting Classifications	CA412393370	rs_1555933963	10 SubmittersRCV000578359 RCV001091316 RCV001824834
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)	SNV Germline	ChrX:19354516	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter	CA412393934	rs_1555934165	1 SubmittersRCV000578439
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)	SNV Germline	ChrX:19353145	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1569190962	4 SubmittersRCV000679874 RCV003313130
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)	SNV Germline	ChrX:19354503	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1569191372	3 SubmittersRCV000680062
NM_000284.4(PDHA1):c.58-1G>A	SNV Germline	ChrX:19349311	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_1569189834	1 SubmittersRCV000688120
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)	SNV Germline	ChrX:19355494	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_1602227679	1 SubmittersRCV000789029
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)	SNV Germline	ChrX:19355437	Pathogenic/Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1272572107	2 SubmittersRCV000805497
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)	SNV Germline	ChrX:19357714	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Pyruvate dehydrogenase complex deficiency	Criteria Provided Conflicting Classifications		rs_1329322647	3 SubmittersRCV001166393 RCV001826985
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)	SNV Germline	ChrX:19344053	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_768396832	3 SubmittersRCV000990497 RCV004030119
NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)	SNV Germline	ChrX:19355387	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_1569191659	1 SubmittersRCV000995601
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)	SNV Unknown	ChrX:19359540	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_1157736285	1 SubmittersRCV001007886
NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)	SNV Germline	ChrX:19355432	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2063189233	1 SubmittersRCV001067311
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)	SNV Germline	ChrX:19354502	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications		rs_769308417	2 SubmittersRCV001090049
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)	SNV Germline	ChrX:19351369	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_2063162114	3 SubmittersRCV001091315 RCV001542509
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)	SNV Germline	ChrX:19355405	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_745607005	3 SubmittersRCV001166388 RCV002365816
NM_000284.4(PDHA1):c.*575T>C	SNV Germline	ChrX:19360228	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_191995452	2 SubmittersRCV001168626 RCV003438708
NM_000284.4(PDHA1):c.57+2531T>C	SNV Unknown	ChrX:19346625	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2063135938	1 SubmittersRCV001198456
NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)	SNV Germline	ChrX:19357682	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2063213272	1 SubmittersRCV001204675
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)	SNV Germline	ChrX:19359578	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2063246734	1 SubmittersRCV001262561
NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)	SNV Germline	ChrX:19359580	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided		rs_1131691584	1 SubmittersRCV001281574
NM_000284.4(PDHA1):c.899+2T>A	SNV Germline	ChrX:19357721	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2063213491	1 SubmittersRCV001329773
NM_000284.4(PDHA1):c.899+4C>T	SNV Germline	ChrX:19357723	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_749903004	2 SubmittersRCV001468509 RCV002561295
NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)	SNV Germline	ChrX:19355714	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_2063192428	3 SubmittersRCV001542510 RCV002286846
NM_000284.4(PDHA1):c.498C>T (p.Ile166=)	SNV Germline	ChrX:19353161	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2147178249	2 SubmittersRCV001547760 RCV001824174
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)	SNV Germline	ChrX:19355713	Pathogenic	Condition: not provided Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_137853259	3 SubmittersRCV001550845 RCV001638161
NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)	SNV Germline	ChrX:19355473	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	No Assertion Criteria Provided		rs_2147180935	1 SubmittersRCV001844384
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)	SNV Unknown	ChrX:19355424	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2147180839	1 SubmittersRCV001706839
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)	SNV Germline	ChrX:19351344	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2147176072	1 SubmittersRCV001775392
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)	SNV Unknown	ChrX:19355369	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2147180742	1 SubmittersRCV001775482
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)	SNV Germline	ChrX:19355430	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2147180851	1 SubmittersRCV001782589
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)	SNV Germline	ChrX:19357688	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2147184502	1 SubmittersRCV001785357
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)	SNV Germline	ChrX:19359616	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter		rs_2147189334	1 SubmittersRCV002249122
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)	SNV Germline	ChrX:19349352	Conflicting classifications of pathogenicity	See cases Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002287826 RCV003101652
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)	SNV Germline	ChrX:19355385	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002468760
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)	SNV Germline	ChrX:19355437	Conflicting classifications of pathogenicity	not specified Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV002469966 RCV003621670
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)	SNV Germline	ChrX:19354498	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002471390
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)	SNV Germline	ChrX:19354491	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002470655
NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)	SNV Germline	ChrX:19355398	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002810656
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)	SNV Germline	ChrX:19355692	Conflicting classifications of pathogenicity	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003219193
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)	SNV Germline	ChrX:19353128	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003335786
NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)	SNV Germline	ChrX:19355361	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003335884
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)	SNV Germline	ChrX:19359629	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003885343
NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)	SNV Germline	ChrX:19355714	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003510915
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)	SNV Germline	ChrX:19351372	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003509039
NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)	SNV Germline	ChrX:19354495	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003509040
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)	SNV Germline	ChrX:19359005	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003509041
NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)	SNV Germline	ChrX:19359628	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003509042
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)	SNV Germline	ChrX:19355714	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003510007
NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)	SNV Germline	ChrX:19355358	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003621954
NM_000284.4(PDHA1):c.899+2T>C	SNV Germline	ChrX:19357721	Likely pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003623453
NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)	SNV Germline	ChrX:19350079	Pathogenic	Pyruvate dehydrogenase E1-alpha deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003985123

NM_000284.4(PDHA1):c.1133G>A (p.Arg378His)

SNV
Germline

ChrX:19359613

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA121205

rs_137853250

5 SubmittersRCV000011620 RCV001267918 RCV002251895

NM_000284.4(PDHA1):c.787C>G (p.Arg263Gly)

SNV
Germline

ChrX:19355713

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA121213

rs_137853259

4 SubmittersRCV000011625 RCV000196576

NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)

SNV
Germline

ChrX:19358920

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided
Inborn genetic diseases
PDHA1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA121214

rs_137853252

9 SubmittersRCV000011626 RCV000199671 RCV000622696 RCV003407316

NM_000284.4(PDHA1):c.773A>C (p.Asp258Ala)

SNV
Germline

ChrX:19355699

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA121216

rs_137853253

1 SubmittersRCV000011628

NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)

SNV
Germline

ChrX:19355360

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA121217

rs_137853254

3 SubmittersRCV000011629

NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)

SNV
Germline

ChrX:19355472

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA121218

rs_137853255

1 SubmittersRCV000011630

NM_000284.4(PDHA1):c.943G>A (p.Asp315Asn)

SNV
Germline

ChrX:19358959

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Single Submitter

CA121219

rs_137853256

2 SubmittersRCV000011631 RCV001268860

NM_000284.4(PDHA1):c.29G>C (p.Arg10Pro)

SNV
Germline

ChrX:19344066

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA121223

rs_137853257

1 SubmittersRCV000011634

NM_000284.4(PDHA1):c.863G>A (p.Arg288His)

SNV
Germline

ChrX:19357683

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA121226

rs_137853258

2 SubmittersRCV000011637

NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)

SNV
Germline

ChrX:19355393

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

CA121228

rs_121917898

1 SubmittersRCV000011640

NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)

SNV
Germline

ChrX:19353146

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA220607

rs_398123300

5 SubmittersRCV000078557 RCV001218777

NM_000284.4(PDHA1):c.628A>G (p.Met210Val)

SNV
Germline

ChrX:19355373

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA247055

rs_794727843

3 SubmittersRCV000179743 RCV002470795

NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)

SNV
Germline

ChrX:19353085

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA203852

rs_794729213

3 SubmittersRCV000184034

NM_000284.4(PDHA1):c.984T>C (p.Asn328=)

SNV
Germline

ChrX:19359000

Conflicting classifications of pathogenicity

not specified
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA208258

rs_767503319

4 SubmittersRCV000194225 RCV000899471 RCV001833137 RCV002381655

NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)

SNV
Germline

ChrX:19350033

Likely pathogenic

Condition: not provided
Inborn genetic diseases
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency
Abnormality of the mitochondrion

Reviewed By Expert Panel

CA320653

rs_863224148

8 SubmittersRCV000505722 RCV000624128 RCV000692713 RCV001796727 RCV001814100

NM_000284.4(PDHA1):c.292-1G>A

SNV
Germline

ChrX:19351280

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA323036

rs_863224149

2 SubmittersRCV000198524 RCV001853189

NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)

SNV
Germline

ChrX:19351368

Pathogenic/Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_199959402

6 SubmittersRCV001091314 RCV001731151

NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)

SNV
Germline

ChrX:19353169

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA323959

rs_863224150

4 SubmittersRCV000199416 RCV000640506 RCV001526400

NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)

SNV
Germline

ChrX:19358926

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA321113

4 SubmittersRCV000196688 RCV000760291 RCV001753598

NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)

SNV
Germline

ChrX:19359612

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
SUDDEN INFANT DEATH SYNDROME
Pyruvate dehydrogenase complex deficiency

Reviewed By Expert Panel

CA323094

rs_863224147

7 SubmittersRCV000198575 RCV000497402 RCV001788065 RCV001796726

NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)

SNV
Germline

ChrX:19359639

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA325044

rs_201156613

3 SubmittersRCV000200467 RCV001079335 RCV002363013

NM_000284.4(PDHA1):c.507G>A (p.Ala169=)

SNV
Germline

ChrX:19353170

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases
PDHA1-related disorder

Criteria Provided
Conflicting Classifications

CA10363043

rs_141862527

6 SubmittersRCV000725565 RCV001088476 RCV001835752 RCV002338844 RCV003920086

NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)

SNV
Germline

ChrX:19359525

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA10607080

rs_886044701

2 SubmittersRCV000407596 RCV003225059

NM_000284.4(PDHA1):c.292-23A>G

SNV
Germline

ChrX:19351258

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA16043723

rs_1057518702

2 SubmittersRCV000415131

NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)

SNV
Germline

ChrX:19357652

Pathogenic/Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16608805

rs_1057521993

2 SubmittersRCV000427505 RCV001250113

NM_000284.4(PDHA1):c.905G>A (p.Arg302His)

SNV
Germline

ChrX:19358921

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16621292

rs_1064794149

4 SubmittersRCV000481593 RCV001216859

NM_000284.4(PDHA1):c.461A>G (p.His154Arg)

SNV
Unknown

ChrX:19353124

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393238

rs_1131692230

1 SubmittersRCV000495894

NM_000284.4(PDHA1):c.738C>T (p.Gly246=)

SNV
Germline

ChrX:19355483

Pathogenic/Likely pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA515486060

rs_1555934379

2 SubmittersRCV000498403 RCV000995830

NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr)

SNV
Germline

ChrX:19351395

Conflicting classifications of pathogenicity

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

CA10363031

rs_138727886

2 SubmittersRCV000513883 RCV001082627

NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)

SNV
Germline

ChrX:19353118

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393200

rs_1555933954

1 SubmittersRCV000578270

NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)

SNV
Germline

ChrX:19353154

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided
Pyruvate dehydrogenase complex deficiency

Criteria Provided
Conflicting Classifications

CA412393370

rs_1555933963

10 SubmittersRCV000578359 RCV001091316 RCV001824834

NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)

SNV
Germline

ChrX:19354516

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

CA412393934

rs_1555934165

1 SubmittersRCV000578439

NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)

SNV
Germline

ChrX:19353145

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569190962

4 SubmittersRCV000679874 RCV003313130

NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr)

SNV
Germline

ChrX:19354503

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569191372

3 SubmittersRCV000680062

NM_000284.4(PDHA1):c.58-1G>A

SNV
Germline

ChrX:19349311

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_1569189834

1 SubmittersRCV000688120

NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)

SNV
Germline

ChrX:19355494

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_1602227679

1 SubmittersRCV000789029

NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)

SNV
Germline

ChrX:19355437

Pathogenic/Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1272572107

2 SubmittersRCV000805497

NM_000284.4(PDHA1):c.894A>G (p.Gly298=)

SNV
Germline

ChrX:19357714

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency

Criteria Provided
Conflicting Classifications

rs_1329322647

3 SubmittersRCV001166393 RCV001826985

NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)

SNV
Germline

ChrX:19344053

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_768396832

3 SubmittersRCV000990497 RCV004030119

NM_000284.4(PDHA1):c.642G>T (p.Trp214Cys)

SNV
Germline

ChrX:19355387

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_1569191659

1 SubmittersRCV000995601

NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)

SNV
Unknown

ChrX:19359540

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_1157736285

1 SubmittersRCV001007886

NM_000284.4(PDHA1):c.687G>C (p.Met229Ile)

SNV
Germline

ChrX:19355432

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2063189233

1 SubmittersRCV001067311

NM_000284.4(PDHA1):c.522C>T (p.Gly174=)

SNV
Germline

ChrX:19354502

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

rs_769308417

2 SubmittersRCV001090049

NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)

SNV
Germline

ChrX:19351369

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_2063162114

3 SubmittersRCV001091315 RCV001542509

NM_000284.4(PDHA1):c.660C>T (p.Phe220=)

SNV
Germline

ChrX:19355405

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_745607005

3 SubmittersRCV001166388 RCV002365816

NM_000284.4(PDHA1):c.*575T>C

SNV
Germline

ChrX:19360228

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_191995452

2 SubmittersRCV001168626 RCV003438708

NM_000284.4(PDHA1):c.57+2531T>C

SNV
Unknown

ChrX:19346625

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2063135938

1 SubmittersRCV001198456

NM_000284.4(PDHA1):c.862C>T (p.Arg288Cys)

SNV
Germline

ChrX:19357682

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2063213272

1 SubmittersRCV001204675

NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)

SNV
Germline

ChrX:19359578

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2063246734

1 SubmittersRCV001262561

NM_000284.4(PDHA1):c.1100A>T (p.His367Leu)

SNV
Germline

ChrX:19359580

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

rs_1131691584

1 SubmittersRCV001281574

NM_000284.4(PDHA1):c.899+2T>A

SNV
Germline

ChrX:19357721

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2063213491

1 SubmittersRCV001329773

NM_000284.4(PDHA1):c.899+4C>T

SNV
Germline

ChrX:19357723

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_749903004

2 SubmittersRCV001468509 RCV002561295

NM_000284.4(PDHA1):c.788G>C (p.Arg263Pro)

SNV
Germline

ChrX:19355714

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2063192428

3 SubmittersRCV001542510 RCV002286846

NM_000284.4(PDHA1):c.498C>T (p.Ile166=)

SNV
Germline

ChrX:19353161

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2147178249

2 SubmittersRCV001547760 RCV001824174

NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)

SNV
Germline

ChrX:19355713

Pathogenic

Condition: not provided
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_137853259

3 SubmittersRCV001550845 RCV001638161

NM_000284.4(PDHA1):c.728A>G (p.Tyr243Cys)

SNV
Germline

ChrX:19355473

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

No Assertion Criteria Provided

rs_2147180935

1 SubmittersRCV001844384

NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)

SNV
Unknown

ChrX:19355424

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2147180839

1 SubmittersRCV001706839

NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)

SNV
Germline

ChrX:19351344

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2147176072

1 SubmittersRCV001775392

NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)

SNV
Unknown

ChrX:19355369

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2147180742

1 SubmittersRCV001775482

NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)

SNV
Germline

ChrX:19355430

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2147180851

1 SubmittersRCV001782589

NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)

SNV
Germline

ChrX:19357688

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2147184502

1 SubmittersRCV001785357

NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)

SNV
Germline

ChrX:19359616

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

rs_2147189334

1 SubmittersRCV002249122

NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)

SNV
Germline

ChrX:19349352

Conflicting classifications of pathogenicity

See cases
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002287826 RCV003101652

NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)

SNV
Germline

ChrX:19355385

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002468760

NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)

SNV
Germline

ChrX:19355437

Conflicting classifications of pathogenicity

not specified
Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002469966 RCV003621670

NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)

SNV
Germline

ChrX:19354498

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002471390

NM_000284.4(PDHA1):c.511G>A (p.Val171Met)

SNV
Germline

ChrX:19354491

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002470655

NM_000284.4(PDHA1):c.653G>A (p.Cys218Tyr)

SNV
Germline

ChrX:19355398

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002810656

NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)

SNV
Germline

ChrX:19355692

Conflicting classifications of pathogenicity

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003219193

NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)

SNV
Germline

ChrX:19353128

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003335786

NM_000284.4(PDHA1):c.616G>A (p.Glu206Lys)

SNV
Germline

ChrX:19355361

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003335884

NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)

SNV
Germline

ChrX:19359629

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003885343

NM_000284.4(PDHA1):c.788G>A (p.Arg263Gln)

SNV
Germline

ChrX:19355714

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003510915

NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)

SNV
Germline

ChrX:19351372

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003509039

NM_000284.4(PDHA1):c.515C>T (p.Pro172Leu)

SNV
Germline

ChrX:19354495

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003509040

NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)

SNV
Germline

ChrX:19359005

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003509041

NM_000284.4(PDHA1):c.1148G>A (p.Trp383Ter)

SNV
Germline

ChrX:19359628

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003509042

NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)

SNV
Germline

ChrX:19355714

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003510007

NM_000284.4(PDHA1):c.613T>C (p.Phe205Leu)

SNV
Germline

ChrX:19355358

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003621954

NM_000284.4(PDHA1):c.899+2T>C

SNV
Germline

ChrX:19357721

Likely pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003623453

NM_000284.4(PDHA1):c.260T>C (p.Ile87Thr)

SNV
Germline

ChrX:19350079

Pathogenic

Pyruvate dehydrogenase E1-alpha deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003985123