ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1778G>C (p.Arg593Pro)

dbSNP: rs764832633
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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 RCV002027227 SCV002314724 uncertain significance not provided 2021-09-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with MSH3-related conditions. This sequence change replaces arginine with proline at codon 593 of the MSH3 protein (p.Arg593Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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