ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.890T>C (p.Met297Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003047630 SCV003343023 uncertain significance Progressive sclerosing poliodystrophy 2022-10-14 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with POLG-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 297 of the POLG protein (p.Met297Thr).
PreventionGenetics, part of Exact Sciences RCV003985875 SCV004797668 uncertain significance POLG-related disorder 2023-12-01 criteria provided, single submitter clinical testing The POLG c.890T>C variant is predicted to result in the amino acid substitution p.Met297Thr. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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