ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1032G>A (p.Gln344=)

dbSNP: rs375799148
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430225 SCV000530118 likely benign not specified 2016-07-21 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 RCV000525919 SCV000625218 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573763 SCV000662215 likely benign Hereditary cancer-predisposing syndrome 2017-04-03 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 RCV000573763 SCV001352019 likely benign Hereditary cancer-predisposing syndrome 2019-02-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000573763 SCV002528800 likely benign Hereditary cancer-predisposing syndrome 2021-03-28 criteria provided, single submitter curation
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000573763 SCV004014937 likely benign Hereditary cancer-predisposing syndrome 2023-03-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533080 SCV004737626 likely benign MSH2-related disorder 2019-10-03 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 RCV004000487 SCV004824587 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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