ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)

gnomAD frequency: 0.00004  dbSNP: rs759331650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001452517 SCV001656185 likely benign Pyruvate dehydrogenase E1-alpha deficiency 2024-01-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003438805 SCV004166689 likely benign not provided 2022-09-01 criteria provided, single submitter clinical testing PDHA1: PP2, BS2
Natera, Inc. RCV001826276 SCV002076923 likely benign Pyruvate dehydrogenase complex deficiency 2019-11-11 no assertion criteria provided clinical testing

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