ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)

gnomAD frequency: 0.00004  dbSNP: rs142935490
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000422153 SCV000535619 uncertain significance not provided 2020-03-18 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000797679 SCV000937252 uncertain significance ALG9 congenital disorder of glycosylation 2022-07-08 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 172 of the ATP6V0A2 protein (p.Lys172Arg). This variant is present in population databases (rs142935490, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with ATP6V0A2-related conditions. ClinVar contains an entry for this variant (Variation ID: 392359). 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: "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.

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