ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) (rs147641581)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000425347 SCV000530753 uncertain significance not provided 2016-08-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ATP6V0A2 gene. The A657V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A657V variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project and the 1000 Genomes Project. The A657V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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