ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2363del (p.Thr788fs)

dbSNP: rs2104405789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001958838 SCV002243328 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-02-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr788Metfs*24) 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003471193 SCV004196945 likely pathogenic Lynch syndrome 1 2020-11-25 criteria provided, single submitter clinical testing

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