ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.4049T>A (p.Val1350Asp)

dbSNP: rs1670218093
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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 RCV001204631 SCV001375844 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-09-14 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MSH6-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. 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: "Benign"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with aspartic acid at codon 1350 of the MSH6 protein (p.Val1350Asp). The valine residue is weakly conserved and there is a large physicochemical difference between valine and aspartic acid.
Baylor Genetics RCV004570432 SCV005054907 uncertain significance Endometrial carcinoma 2024-02-20 criteria provided, single submitter clinical testing

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