ClinVar Miner

Submissions for variant NM_001040108.2(MLH3):c.2644G>C (p.Gly882Arg)

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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 RCV003110904 SCV003783052 uncertain significance Colorectal cancer, hereditary nonpolyposis, type 7 2022-01-17 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 882 of the MLH3 protein (p.Gly882Arg). This variant is present in population databases (rs372175165, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MLH3-related conditions. 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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