ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)

dbSNP: rs373564353
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001201365 SCV000254387 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 516 of the MSH2 protein (p.Ser516Asn). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 216343). Invitae Evidence Modeling incorporating data from in vitro experimental studies (PMID: 33357406) indicates that this missense variant is not expected to disrupt MSH2 function with a negative predictive value of 95%. 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.
Color Diagnostics, LLC DBA Color Health RCV000774569 SCV000908307 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-03 criteria provided, single submitter clinical testing
Mendelics RCV000986673 SCV001135735 uncertain significance Lynch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774569 SCV001172456 likely benign Hereditary cancer-predisposing syndrome 2022-05-30 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.
All of Us Research Program, National Institutes of Health RCV004806190 SCV005429115 uncertain significance Lynch syndrome 2024-08-06 criteria provided, single submitter clinical testing

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