ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2661T>G (p.Leu887=)

gnomAD frequency: 0.00001  dbSNP: rs267608069
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000074772 SCV000107982 likely benign Lynch syndrome 2013-09-05 reviewed by expert panel research Multifactorial likelihood analysis posterior probability 0.001-0.049
Ambry Genetics RCV000166815 SCV000217629 likely benign Hereditary cancer-predisposing syndrome 2018-05-01 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000546595 SCV000624783 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-06-28 criteria provided, single submitter clinical testing
GeneDx RCV000601843 SCV000728277 likely benign not specified 2018-03-05 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.
Color Diagnostics, LLC DBA Color Health RCV000166815 SCV001354161 likely benign Hereditary cancer-predisposing syndrome 2022-01-01 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV003492399 SCV004239309 likely benign Breast and/or ovarian cancer 2023-04-14 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000074772 SCV004838427 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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