ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1058del (p.Lys353fs)

dbSNP: rs1573456772
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986665 SCV001135722 pathogenic Lynch syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003594066 SCV004310914 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-07-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys353Argfs*4) 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 (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: 801688). For these reasons, this variant has been classified as Pathogenic.

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