ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2153C>T (p.Ala718Val)

dbSNP: rs750036881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773267 SCV002001709 uncertain significance not provided 2020-01-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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
Labcorp Genetics (formerly Invitae), Labcorp RCV002540583 SCV003287653 uncertain significance Progressive sclerosing poliodystrophy 2022-08-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1315073). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is present in population databases (rs750036881, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 718 of the POLG protein (p.Ala718Val).

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