ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg)

dbSNP: rs780081278
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000799261 SCV000938915 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-11-05 criteria provided, single submitter clinical testing 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. 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 variant has not been reported in the literature in individuals with MSH6-related disease. This variant is present in population databases (rs780081278, ExAC 0.006%). This sequence change replaces threonine with arginine at codon 895 of the MSH6 protein (p.Thr895Arg). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and arginine.
Fulgent Genetics, Fulgent Genetics RCV002487680 SCV002793399 uncertain significance Endometrial carcinoma; Lynch syndrome 5; Mismatch repair cancer syndrome 3 2021-10-19 criteria provided, single submitter clinical testing

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