ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.3686G>C (p.Gly1229Ala)

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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 RCV003052638 SCV003445632 uncertain significance Progressive sclerosing poliodystrophy 2023-09-09 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on POLG protein function. ClinVar contains an entry for this variant (Variation ID: 2139522). This variant has not been reported in the literature in individuals affected with POLG-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1229 of the POLG protein (p.Gly1229Ala). This variant is not present in population databases (gnomAD no frequency).

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