ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.826G>A (p.Ala276Thr)

dbSNP: rs778531134
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203005 SCV000257930 uncertain significance not specified 2015-06-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515497 SCV003497907 uncertain significance Progressive sclerosing poliodystrophy 2022-09-14 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 218616). This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is present in population databases (rs778531134, gnomAD 0.003%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 276 of the POLG protein (p.Ala276Thr). 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. 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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