ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.102dup (p.Arg35fs)

dbSNP: rs1672241024
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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 RCV001217678 SCV001389527 pathogenic Hereditary nonpolyposis colorectal neoplasms 2022-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg35Alafs*47) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 946752). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. This variant is not present in population databases (gnomAD no frequency).
Myriad Genetics, Inc. RCV003449685 SCV004187957 pathogenic Lynch syndrome 1 2023-07-26 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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