ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.194C>T (p.Ser65Leu)

gnomAD frequency: 0.00001  dbSNP: rs41294984
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074698 SCV000107903 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Labcorp Genetics (formerly Invitae), Labcorp RCV000524128 SCV000166215 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-02 criteria provided, single submitter clinical testing
GeneDx RCV000160709 SCV000211340 uncertain significance not provided 2023-05-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Observed in an individual with colorectal cancer; however, analysis of this tumor revealed presence of MLH1, MSH2, and MSH6 proteins by immunohistochemistry and microsatellite stable histology (Barnetson et al., 2008); This variant is associated with the following publications: (PMID: 19389263, 24728327, 27527004, 21153778, 22290698, 23621914, 29641532, 18033691)
Ambry Genetics RCV000568962 SCV000669945 likely benign Hereditary cancer-predisposing syndrome 2023-06-02 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 RCV000568962 SCV000911820 benign Hereditary cancer-predisposing syndrome 2016-06-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000568962 SCV002535684 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter curation

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