ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1344C>T (p.Ser448=)

gnomAD frequency: 0.00001  dbSNP: rs1010360604
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000680204 SCV000807668 likely benign Lynch syndrome 1 2018-06-13 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability < 0.05 (0.009)
Labcorp Genetics (formerly Invitae), Labcorp RCV000554163 SCV000625253 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000574941 SCV000662207 likely benign Hereditary cancer-predisposing syndrome 2016-04-04 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 RCV001722458 SCV000716490 likely benign not provided 2018-10-15 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000574941 SCV000912949 likely benign Hereditary cancer-predisposing syndrome 2018-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000574941 SCV002528837 likely benign Hereditary cancer-predisposing syndrome 2022-03-21 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV004003730 SCV004824982 likely benign Lynch syndrome 2023-06-28 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000680204 SCV005897289 benign Lynch syndrome 1 2024-12-09 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.

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