ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.624A>C (p.Gly208=)

gnomAD frequency: 0.00001  dbSNP: rs786202651
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165563 SCV000216296 likely benign Hereditary cancer-predisposing syndrome 2014-08-09 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.
GeneDx RCV000438502 SCV000535240 likely benign not specified 2016-12-19 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.
Invitae RCV000630339 SCV000751295 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165563 SCV002052718 likely benign Hereditary cancer-predisposing syndrome 2021-06-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438502 SCV004020514 likely benign not specified 2023-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004539553 SCV004770829 likely benign MSH2-related disorder 2020-02-10 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 RCV003995428 SCV004830850 likely benign Lynch syndrome 2023-11-02 criteria provided, single submitter clinical testing

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