ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001248468 SCV001421956 pathogenic ALG9 congenital disorder of glycosylation 2019-03-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val611Phefs*14) in the ATP6V0A2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ATP6V0A2-related conditions. Loss-of-function variants in ATP6V0A2 are known to be pathogenic (PMID: 18157129, 19321599). For these reasons, this variant has been classified as Pathogenic.

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