ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.1185del (p.Tyr396fs)

dbSNP: rs566440675
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002274547 SCV002559331 pathogenic not provided 2022-08-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20694819, 12414817, 26846157, 29440549, 19639346, 34159584, 28233610)
Labcorp Genetics (formerly Invitae), Labcorp RCV002274547 SCV003299460 pathogenic not provided 2022-10-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr396Thrfs*12) in the ATP6V0A4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP6V0A4 are known to be pathogenic (PMID: 12414817, 16611712). This variant is present in population databases (rs566440675, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with renal tubular acidosis (PMID: 34159584). ClinVar contains an entry for this variant (Variation ID: 1700298). For these reasons, this variant has been classified as Pathogenic.

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