ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.843A>T (p.Ser281=)

gnomAD frequency: 0.00005  dbSNP: rs150197753
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232025 SCV000284190 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV001705241 SCV000513655 likely benign not provided 2020-02-05 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15849733, 22585170)
Ambry Genetics RCV000573521 SCV000662238 likely benign Hereditary cancer-predisposing syndrome 2015-04-16 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 RCV000573521 SCV000685135 likely benign Hereditary cancer-predisposing syndrome 2015-06-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000422592 SCV000919700 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Mendelics RCV000986654 SCV001135709 likely benign Lynch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000986654 SCV001299509 uncertain significance Lynch syndrome 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Sema4, Sema4 RCV000573521 SCV002526754 likely benign Hereditary cancer-predisposing syndrome 2021-10-26 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000422592 SCV002760635 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001705241 SCV004221022 likely benign not provided 2022-09-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004541371 SCV004766949 likely benign MSH2-related disorder 2019-07-25 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 RCV003998767 SCV004831522 likely benign Lynch syndrome 2024-02-05 criteria provided, single submitter clinical testing

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