ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.173_174delinsAA (p.Phe58Ter)

dbSNP: rs1672250353
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001040735 SCV001204324 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-01-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 839057). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This sequence change creates a premature translational stop signal (p.Phe58*) 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).

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