ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter)

gnomAD frequency: 0.00001  dbSNP: rs782138777
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000624912 SCV000742059 pathogenic Inborn genetic diseases 2017-08-04 criteria provided, single submitter clinical testing
Mendelics RCV000986767 SCV001135884 pathogenic Renal tubular acidosis with progressive nerve deafness 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001222461 SCV001394560 pathogenic not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg114*) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with distal renal tubular acidosis with deafness (PMID: 17669226). ClinVar contains an entry for this variant (Variation ID: 521461). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000986767 SCV003807416 pathogenic Renal tubular acidosis with progressive nerve deafness 2022-08-17 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 supporting, PM2 moderated, PM3 supporting
Natera, Inc. RCV000986767 SCV002079705 pathogenic Renal tubular acidosis with progressive nerve deafness 2020-07-22 no assertion criteria provided clinical testing

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