ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.423G>A (p.Ala141=)

gnomAD frequency: 0.00010  dbSNP: rs141969350
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Total submissions: 4
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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 RCV000213675 SCV000269991 likely benign not specified 2016-01-15 criteria provided, single submitter clinical testing p.Ala141Ala in Exon 5 of ATP6V1B1: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wi thin the splice consensus sequence, and has been identified in 14/66540 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs141969350).
Counsyl RCV000666950 SCV000791327 likely benign Renal tubular acidosis with progressive nerve deafness 2017-05-09 criteria provided, single submitter clinical testing
GeneDx RCV000839949 SCV000981862 likely benign not provided 2021-01-07 criteria provided, single submitter clinical testing
Invitae RCV000839949 SCV001058669 likely benign not provided 2024-01-17 criteria provided, single submitter clinical testing

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