ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.334C>T (p.Gln112Ter)

dbSNP: rs779869631
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000287838 SCV000330654 pathogenic not provided 2016-07-06 criteria provided, single submitter clinical testing The Q112X pathogenic variant in the ATP6V0A4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q112X 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. We interpret Q112X as a pathogenic variant.

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