ClinVar Miner

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

dbSNP: rs2147184502
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001785357 SCV002026370 likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2021-11-04 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PM1, PM2_SUP, PP3

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