ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.255C>A (p.Pro85=)

dbSNP: rs587779242
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000162839 SCV000213326 likely benign Hereditary cancer-predisposing syndrome 2014-12-24 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.
Invitae RCV000524144 SCV000253098 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-30 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000162839 SCV000690264 likely benign Hereditary cancer-predisposing syndrome 2015-06-02 criteria provided, single submitter clinical testing
Counsyl RCV000663249 SCV000786470 likely benign Lynch syndrome 5 2018-05-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001194336 SCV001363797 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284518 SCV001470353 likely benign not provided 2020-08-14 criteria provided, single submitter clinical testing
GeneDx RCV001284518 SCV001865033 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162839 SCV002535747 likely benign Hereditary cancer-predisposing syndrome 2021-05-06 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000663249 SCV004018998 benign Lynch syndrome 5 2023-03-29 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
All of Us Research Program, National Institutes of Health RCV003997078 SCV004828703 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001194336 SCV003839746 likely benign not specified 2022-07-14 no assertion criteria provided clinical testing

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