ClinVar Miner

Submissions for variant NM_000920.3(PC):c.786G>T (p.Glu262Asp) (rs200030109)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664794 SCV000788809 uncertain significance Pyruvate carboxylase deficiency 2016-12-16 criteria provided, single submitter clinical testing
GeneDx RCV000186122 SCV000239147 likely pathogenic not provided 2014-02-14 criteria provided, single submitter clinical testing p.Glu262Asp (GAG>GAT): c.786 G>T in exon 8 of the PC gene (NM_000920.3) A E262D missense change that is likely pathogenic was identified in the PC gene. It has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is conservative as both Glutamic Acid and Aspartic Acid are negatively charged amino acids; however, this change occurs at a highly conserved position in the PC protein, and multiple in-silico analysis models predict that E262D is damaging to the PC protein. Therefore, E262D is a strong candidate for a disease-causing mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in MITONUC-MITOP panel(s).

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