ClinVar Miner

Submissions for variant NM_020632.3(ATP6V0A4):c.102G>C (p.Leu34Phe)

gnomAD frequency: 0.00001  dbSNP: rs1173300423
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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 RCV001981337 SCV002220110 uncertain significance not provided 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 34 of the ATP6V0A4 protein (p.Leu34Phe). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and phenylalanine. 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: "Tolerated"; PolyPhen-2: "Probably 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 RCV005031962 SCV005666084 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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