ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter)

gnomAD frequency: 0.00001  dbSNP: rs1572924733
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986768 SCV001135885 likely pathogenic Renal tubular acidosis with progressive nerve deafness 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001215274 SCV001387008 pathogenic not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr462*) in the ATP6V1B1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 52 amino acid(s) of the ATP6V1B1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATP6V1B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 801719). This variant disrupts a region of the ATP6V1B1 protein in which other variant(s) (p.Phe468Cysfs*20) have been determined to be pathogenic (PMID: 8651253, 18368028, 25164082). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000986768 SCV002794323 likely pathogenic Renal tubular acidosis with progressive nerve deafness 2022-01-04 criteria provided, single submitter clinical testing

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