ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.148C>A (p.Gln50Lys)

gnomAD frequency: 0.00001  dbSNP: rs752556685
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001313758 SCV001504262 uncertain significance Progressive sclerosing poliodystrophy 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 50 of the POLG protein (p.Gln50Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs752556685, ExAC 0.002%). This variant has not been reported in the literature in individuals affected with POLG-related conditions. 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: "Deleterious"; PolyPhen-2: "Benign"; 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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