ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)

dbSNP: rs1573437173
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986648 SCV001135699 likely pathogenic Lynch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858650 SCV002180079 pathogenic Hereditary nonpolyposis colorectal neoplasms 2020-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Leu119*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 801680).

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