ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.116A>G (p.Gln39Arg)

gnomAD frequency: 0.00001  dbSNP: rs749750052
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188523 SCV000242137 likely benign not specified 2017-02-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000723678 SCV000700601 uncertain significance not provided 2017-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001852486 SCV002286046 uncertain significance Progressive sclerosing poliodystrophy 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 39 of the POLG protein (p.Gln39Arg). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with POLG-related conditions. ClinVar contains an entry for this variant (Variation ID: 206474). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt POLG protein function with a negative predictive value of 95%. 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.
CeGaT Center for Human Genetics Tuebingen RCV000723678 SCV002497815 likely benign not provided 2022-02-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000723678 SCV003809208 uncertain significance not provided 2021-04-13 criteria provided, single submitter clinical testing

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