ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.77T>C (p.Met26Thr)

gnomAD frequency: 0.00023  dbSNP: rs527738649
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222331 SCV000269993 likely benign not specified 2015-06-02 criteria provided, single submitter clinical testing p.Met26Thr in exon 1 of ATP6V1B1: This variant is not expected to have clinical significance because it has been identified in 0.3% (26/8630) of East Asian chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs527738649).
GeneDx RCV000766323 SCV000524362 uncertain significance not provided 2022-05-19 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000766323 SCV001094811 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003929883 SCV004756425 likely benign ATP6V1B1-related condition 2023-08-03 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274733 SCV001459115 uncertain significance Renal tubular acidosis with progressive nerve deafness 2019-12-10 no assertion criteria provided clinical testing

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