ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)

gnomAD frequency: 0.00009  dbSNP: rs758214692
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001894718 SCV002128662 uncertain significance ALG9 congenital disorder of glycosylation 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 10 of the ATP6V0A2 protein (p.Met10Val). This variant is present in population databases (rs758214692, gnomAD 0.007%). 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: 1368713). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ATP6V0A2 protein function. 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 RCV002482562 SCV002788814 uncertain significance Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2021-08-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002551039 SCV003628939 uncertain significance Inborn genetic diseases 2022-08-04 criteria provided, single submitter clinical testing The c.28A>G (p.M10V) alteration is located in exon 1 (coding exon 1) of the ATP6V0A2 gene. This alteration results from a A to G substitution at nucleotide position 28, causing the methionine (M) at amino acid position 10 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004591607 SCV005078311 uncertain significance not provided 2023-12-05 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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

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