ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.77T>C (p.Val26Ala)

gnomAD frequency: 0.00001  dbSNP: rs1444710096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001919045 SCV002185402 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 26 of the ATP6V0A4 protein (p.Val26Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with ATP6V0A4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV005031874 SCV005666087 uncertain significance Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 2024-03-05 criteria provided, single submitter clinical testing

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