ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2941dup (p.Thr981fs)

dbSNP: rs2112106551
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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 RCV001951018 SCV002238845 pathogenic not provided 2021-02-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with MSH3-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr981Asnfs*5) in the MSH3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653).
Myriad Genetics, Inc. RCV004044378 SCV004930913 pathogenic Familial adenomatous polyposis 4 2024-02-07 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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