ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del)

dbSNP: rs746982385
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences RCV001353206 SCV001442497 likely pathogenic Sensorineural hearing loss disorder 2020-09-30 criteria provided, single submitter clinical testing
Invitae RCV001880079 SCV002136797 uncertain significance not provided 2021-08-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs746982385, ExAC 0.01%). This variant has been observed in individuals with renal tubular acidosis (PMID: 12414817, 28233610). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant, c.710_712del, results in the deletion of 1 amino acid(s) of the ATP6V0A4 protein (p.Lys237del), but otherwise preserves the integrity of the reading frame.

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