ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1948T>C (p.Phe650Leu)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002413291 SCV002722830 likely benign Hereditary cancer-predisposing syndrome 2022-03-22 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320891 SCV004024758 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Invitae RCV003774574 SCV004638193 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-05-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33357406) indicates that this missense variant is not expected to disrupt MSH2 function. ClinVar contains an entry for this variant (Variation ID: 1783164). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 650 of the MSH2 protein (p.Phe650Leu).
All of Us Research Program, National Institutes of Health RCV004007380 SCV004833257 uncertain significance Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing

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