ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3851C>G (p.Thr1284Arg)

dbSNP: rs63750836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000694675 SCV000823132 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-06-19 criteria provided, single submitter clinical testing This sequence change replaces threonine with arginine at codon 1284 of the MSH6 protein (p.Thr1284Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine 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 disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Illumina Laboratory Services, Illumina RCV001139792 SCV001299979 uncertain significance Lynch syndrome 5 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
All of Us Research Program, National Institutes of Health RCV003999622 SCV004835415 uncertain significance Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV004569323 SCV005054881 uncertain significance Endometrial carcinoma 2024-03-01 criteria provided, single submitter clinical testing

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