ClinVar Miner

Submissions for variant NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)

dbSNP: rs371533517
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756836 SCV001995063 uncertain significance not provided 2019-10-28 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868453 SCV002204673 uncertain significance ALG9 congenital disorder of glycosylation 2022-08-08 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 295 of the ATP6V0A2 protein (p.Val295Ile). This variant is present in population databases (rs371533517, 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: 1309768). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV002477953 SCV002793932 uncertain significance Cutis laxa with osteodystrophy; Wrinkly skin syndrome 2022-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544073 SCV003526236 uncertain significance Inborn genetic diseases 2021-01-07 criteria provided, single submitter clinical testing The c.883G>A (p.V295I) alteration is located in exon 9 (coding exon 9) of the ATP6V0A2 gene. This alteration results from a G to A substitution at nucleotide position 883, causing the valine (V) at amino acid position 295 to be replaced by an isoleucine (I). The p.V295I alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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