ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1311G>T (p.Val437=)

gnomAD frequency: 0.00001  dbSNP: rs730881781
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160645 SCV000211247 benign not specified 2014-07-30 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.
Counsyl RCV000412435 SCV000488392 likely benign Lynch syndrome 1 2016-03-15 criteria provided, single submitter clinical testing
Invitae RCV000547785 SCV000625248 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-13 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000774566 SCV000908301 likely benign Hereditary cancer-predisposing syndrome 2018-05-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000160645 SCV000919701 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774566 SCV001171172 likely benign Hereditary cancer-predisposing syndrome 2015-12-02 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.
Myriad Genetics, Inc. RCV000412435 SCV004018322 benign Lynch syndrome 1 2023-03-20 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 RCV003998487 SCV004832768 likely benign Lynch syndrome 2023-05-23 criteria provided, single submitter clinical testing

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