ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.738C>T (p.Gly246=) (rs1555934379)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498403 SCV000589848 likely pathogenic not provided 2016-05-05 criteria provided, single submitter clinical testing The c.738C>T variant in the PDHA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.738C>T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple in silico algorithms predict that c.738C>T may create a cryptic donor site upstream of the natural donor site of intron 7. However, in the absence of RNA/functional studies, the actual effect of c.738C>T is unknown. The c.738C>T variant is a strong candidate for a pathogenic variant. However, the possibility it may be a rare benign variant cannot be excluded.
Institute of Human Genetics, Klinikum rechts der Isar RCV000995830 SCV001150198 pathogenic Pyruvate dehydrogenase E1-alpha deficiency 2019-10-23 criteria provided, single submitter clinical testing

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