ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.459C>T (p.Ser153=)

gnomAD frequency: 0.00001  dbSNP: rs63751065
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165961 SCV000216718 likely benign Hereditary cancer-predisposing syndrome 2020-09-10 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.
Invitae RCV000524409 SCV000253158 benign Hereditary nonpolyposis colorectal neoplasms 2024-01-12 criteria provided, single submitter clinical testing
GeneDx RCV001703979 SCV000515456 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10978353, 8872463, 12419761, 9322509)
Counsyl RCV000662573 SCV000785183 likely benign Lynch syndrome 1 2017-05-25 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165961 SCV000910944 likely benign Hereditary cancer-predisposing syndrome 2016-08-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001797623 SCV002041517 likely benign not specified 2021-11-01 criteria provided, single submitter clinical testing
Mendelics RCV001797623 SCV002519428 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165961 SCV002534523 likely benign Hereditary cancer-predisposing syndrome 2022-02-08 criteria provided, single submitter curation
Myriad Genetics, Inc. RCV000662573 SCV004018366 benign Lynch syndrome 1 2023-03-22 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.
All of Us Research Program, National Institutes of Health RCV003997175 SCV004830310 likely benign Lynch syndrome 2023-11-30 criteria provided, single submitter clinical testing

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