ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1746C>T (p.Val582=)

dbSNP: rs786201486
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163735 SCV000214310 likely benign Hereditary cancer-predisposing syndrome 2015-06-03 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.
GeneDx RCV000434528 SCV000524445 likely benign not specified 2016-08-23 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 RCV000463895 SCV000559228 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000986678 SCV001135743 likely benign Lynch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163735 SCV001343692 likely benign Hereditary cancer-predisposing syndrome 2018-10-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812141 SCV002047690 likely benign not provided 2020-10-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163735 SCV002534402 likely benign Hereditary cancer-predisposing syndrome 2020-11-04 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004535082 SCV004757212 likely benign MSH2-related disorder 2022-04-11 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 RCV003995278 SCV004827244 likely benign Lynch syndrome 2023-05-16 criteria provided, single submitter clinical testing

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