ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1096G>A (p.Gly366Arg)

dbSNP: rs1340995594
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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 RCV002043162 SCV002301039 uncertain significance Progressive sclerosing poliodystrophy 2021-02-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with POLG-related conditions. This sequence change replaces glycine with arginine at codon 366 of the POLG protein (p.Gly366Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt POLG protein function. 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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