ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.292-23A>G (rs1057518702)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000415131 SCV001599354 likely benign Pyruvate dehydrogenase E1-alpha deficiency 2020-07-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV000415131 SCV000328810 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2015-01-25 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in SCN1A (NM_001165963.1, c.1709G>A) and PDHA1 (NM_001173454.1, c.292-2A>G) in this individual with features of speech delay and seizure disorder. The PDHA1 variant has been previously described as disease-causing [PMID:21914562].

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