ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.945T>G (p.Ser315=)

dbSNP: rs761581941
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001079303 SCV000625024 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562002 SCV000662399 likely benign Hereditary cancer-predisposing syndrome 2016-07-25 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000562002 SCV000690491 likely benign Hereditary cancer-predisposing syndrome 2015-06-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781580 SCV000919741 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000827332 SCV000968971 likely benign not provided 2018-05-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Sema4, Sema4 RCV000562002 SCV002536370 likely benign Hereditary cancer-predisposing syndrome 2022-02-27 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000827332 SCV004222066 uncertain significance not provided 2023-05-09 criteria provided, single submitter clinical testing To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect MSH6 mRNA splicing . Based on the available information, we are unable to determine the clinical significance of this variant.
All of Us Research Program, National Institutes of Health RCV004003707 SCV004834945 likely benign Lynch syndrome 2023-06-08 criteria provided, single submitter clinical testing

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