ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.7G>T (p.Val3Leu)

dbSNP: rs1257347271
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000781996 SCV000920453 benign Lynch syndrome 2018-10-18 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability < 0.001 (0.0007)
Color Diagnostics, LLC DBA Color Health RCV000774955 SCV000909043 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774955 SCV001189545 likely benign Hereditary cancer-predisposing syndrome 2023-05-17 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 RCV002536693 SCV003496815 benign Hereditary nonpolyposis colorectal neoplasms 2023-11-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV003461034 SCV004196223 uncertain significance Lynch syndrome 1 2023-10-02 criteria provided, single submitter clinical testing

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