ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.371A>T (p.Glu124Val)

dbSNP: rs1418568120
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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 RCV001873982 SCV002124994 uncertain significance Progressive sclerosing poliodystrophy 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 124 of the POLG protein (p.Glu124Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is not present in population databases (ExAC no frequency). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; 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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