ClinVar Miner

Submissions for variant NM_001692.4(ATP6V1B1):c.5C>A (p.Ala2Asp)

dbSNP: rs876657744
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Total submissions: 2
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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 RCV000219935 SCV000271511 uncertain significance not specified 2015-02-20 criteria provided, single submitter clinical testing The p.Ala2Asp variant in ATP6V1B1 has not been previously reported in individual s with hearing loss and was absent from large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p .Ala2Asp variant is uncertain.
Natera, Inc. RCV001833188 SCV002079073 uncertain significance Renal tubular acidosis with progressive nerve deafness 2020-02-21 no assertion criteria provided clinical testing

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