ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)

gnomAD frequency: 0.00001  dbSNP: rs1288346981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003558784 SCV004293927 pathogenic not provided 2023-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln27*) in the ATP6V1B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP6V1B1 are known to be pathogenic (PMID: 9916796, 18368028). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of ATP6V1B1-related disorders (PMID: 28844315). ClinVar contains an entry for this variant (Variation ID: 988216). For these reasons, this variant has been classified as Pathogenic.
Sydney Genome Diagnostics, Children's Hospital Westmead RCV001328240 SCV001449187 likely pathogenic Renal tubular acidosis 2014-04-18 no assertion criteria provided clinical testing

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