ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs)

dbSNP: rs2104042264
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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 RCV001377953 SCV001575411 likely pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-11-12 criteria provided, single submitter clinical testing This variant results in the deletion of part of exon 3 (c.642_645+1delins22) of the MSH2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and 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: 1066844). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Johns Hopkins Genomics, Johns Hopkins University RCV003150827 SCV003839082 pathogenic Mismatch repair cancer syndrome 2 2023-01-03 criteria provided, single submitter clinical testing

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