ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.280C>G (p.Leu94Val)

gnomAD frequency: 0.00001  dbSNP: rs1330621664
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564607 SCV000669792 likely benign Hereditary cancer-predisposing syndrome 2022-12-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001351270 SCV001545721 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2023-06-07 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 483702). This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 94 of the MSH2 protein (p.Leu94Val). 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.

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