ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2235T>G (p.Ile745Met)

dbSNP: rs556339046
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000473197 SCV000551084 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-07-17 criteria provided, single submitter clinical testing
Counsyl RCV000663137 SCV000786281 uncertain significance Lynch syndrome 5 2018-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014897 SCV001175666 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-05 criteria provided, single submitter clinical testing The p.I745M variant (also known as c.2235T>G), located in coding exon 4 of the MSH6 gene, results from a T to G substitution at nucleotide position 2235. The isoleucine at codon 745 is replaced by methionine, an amino acid with highly similar properties. This variant has been reported as a variant of unknown significance in an individual with a personal history of breast cancer from a cohort of 1191 cancer index patients who underwent clinical evaluation and testing with multigene panels (Chan GHJ et al. Oncotarget. 2018 Jul;9:30649-30660). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Color Diagnostics, LLC DBA Color Health RCV001014897 SCV001358084 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-06 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000663137 SCV004018461 uncertain significance Lynch syndrome 5 2023-03-27 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
All of Us Research Program, National Institutes of Health RCV004806318 SCV005429321 uncertain significance Lynch syndrome 2024-04-10 criteria provided, single submitter clinical testing

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