ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.1565G>C (p.Gly522Ala)

gnomAD frequency: 0.00001  dbSNP: rs769410234
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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 RCV002003291 SCV002274193 uncertain significance Progressive sclerosing poliodystrophy 2020-11-13 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces glycine with alanine at codon 522 of the POLG protein (p.Gly522Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs769410234, ExAC 0.006%). This variant has not been reported in the literature in individuals with POLG-related conditions.

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