ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys) (rs1569190962)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000679874 SCV000807255 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported as disease-causing and was found once in our laboratory in a 6-year-old female with global delays, left-sided weakness, possible Leigh syndrome, leg length discrepancy, speech delay, ophthalmologic abnormalities
Elsea Laboratory,Baylor College of Medicine RCV000679874 SCV001424215 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2020-04-01 criteria provided, single submitter clinical testing

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