ClinVar Miner

Submissions for variant NM_002693.3(POLG):c.2762T>C (p.Leu921Pro)

dbSNP: rs2152061053
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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 RCV001864112 SCV002122639 uncertain significance Progressive sclerosing poliodystrophy 2021-10-05 criteria provided, single submitter clinical testing 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 disruptive. 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 921 of the POLG protein (p.Leu921Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline.

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