ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2061C>G (p.Leu687=)

gnomAD frequency: 0.00002  dbSNP: rs63750032
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165457 SCV000216187 likely benign Hereditary cancer-predisposing syndrome 2014-08-27 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 RCV001084676 SCV000260986 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-25 criteria provided, single submitter clinical testing
Counsyl RCV000410055 SCV000489412 likely benign Lynch syndrome 1 2016-10-03 criteria provided, single submitter clinical testing
GeneDx RCV000203982 SCV000516738 likely benign not provided 2021-02-23 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14688830, 24362816)
Color Diagnostics, LLC DBA Color Health RCV000165457 SCV000685005 likely benign Hereditary cancer-predisposing syndrome 2015-07-20 criteria provided, single submitter clinical testing
Mendelics RCV000410055 SCV001135749 likely benign Lynch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000203982 SCV001152282 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing MSH2: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000203982 SCV001469807 likely benign not provided 2023-08-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818380 SCV002068602 likely benign not specified 2019-02-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165457 SCV002534443 likely benign Hereditary cancer-predisposing syndrome 2021-08-19 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001818380 SCV003934380 likely benign not specified 2023-05-14 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000410055 SCV004018258 benign Lynch syndrome 1 2023-03-17 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.
PreventionGenetics, part of Exact Sciences RCV004535113 SCV004742972 likely benign MSH2-related disorder 2019-09-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003995420 SCV004825261 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing

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