ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2261C>T (p.Thr754Ile)

dbSNP: rs1669440639
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368982 SCV001565408 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2020-03-14 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with isoleucine at codon 754 of the MSH6 protein (p.Thr754Ile). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and isoleucine.
Baylor Genetics RCV003462935 SCV004197694 uncertain significance Endometrial carcinoma 2023-09-26 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493850 SCV004243092 uncertain significance not specified 2024-02-06 criteria provided, single submitter clinical testing

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