ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg) (rs1553414398)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580511 SCV000685346 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-21 criteria provided, single submitter clinical testing
Mendelics RCV000708885 SCV000837907 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001060489 SCV001225181 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-06 criteria provided, single submitter clinical testing This sequence change replaces tryptophan with arginine at codon 1007 of the MSH6 protein (p.Trp1007Arg). The tryptophan residue is moderately conserved and there is a moderate physicochemical difference between tryptophan 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 MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 489995). 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: "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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