ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser) (rs1569190092)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680061 SCV000807501 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2017-09-01 criteria provided, single submitter clinical testing This variant has been previously reported and was found once in our laboratory mosaic and de novo in a 12-year-old male with no speech, neuropathy, acquired torsion dystonia, encephalopathy, scoliosis, microcephaly, vision loss, small optic nerves

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