ClinVar Miner

Submissions for variant NM_000249.3(MLH1):c.2240C>G (p.Pro747Arg) (rs1224959447)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630047 SCV000751003 uncertain significance Hereditary nonpolyposis colon cancer 2017-12-04 criteria provided, single submitter clinical testing This sequence change replaces proline with arginine at codon 747 of the MLH1 protein (p.Pro747Arg). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MLH1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; 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.
Color RCV000777061 SCV000912743 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-12 criteria provided, single submitter clinical testing

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