ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2187G>C (p.Gln729His)

dbSNP: rs539787090
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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 RCV001366193 SCV001562489 uncertain significance Progressive sclerosing poliodystrophy 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 729 of the POLG protein (p.Gln729His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with POLG-related conditions. 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 tolerated. 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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