ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg) (rs1057518695)

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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 RCV000415066 SCV000328801 uncertain significance Pyruvate dehydrogenase E1-alpha deficiency 2014-06-23 no assertion criteria provided clinical testing Our lab has reported a de novo missense variant in an individual with features that include hypotonia, apnea, lactic acidosis, and a prenatal history of intrauterine growth restriction, hydrocephalus, cystic kidneys and concern for aortic coarctation. A brain MRI showed microcephaly, simplified gyral pattern, diffuse reduction in the cerebral white matter volume, agenesis of the corpus callosum, marked lateral ventriculomegaly, volume loss and irregularity along the interior cerebellar hemispheres, and a small brainstem. A variant in DNM1L (NM_012063.3, c.1135G>A) was also reported in this individual.

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