ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.6G>C (p.Ala2=)

dbSNP: rs368270856
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001171948 SCV000517876 likely benign not provided 2021-01-25 criteria provided, single submitter clinical testing
Invitae RCV000474559 SCV000559195 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566649 SCV000662217 likely benign Hereditary cancer-predisposing syndrome 2015-01-18 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 RCV000566649 SCV000685119 likely benign Hereditary cancer-predisposing syndrome 2016-02-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000435277 SCV000696279 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171948 SCV001334858 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000566649 SCV002534553 likely benign Hereditary cancer-predisposing syndrome 2020-10-28 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004530564 SCV004744582 likely benign MSH2-related disorder 2019-05-17 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 RCV003996035 SCV004826172 likely benign Lynch syndrome 2023-12-13 criteria provided, single submitter clinical testing

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