ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1575dup (p.Lys526Ter)

dbSNP: rs2112866746
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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 RCV001386855 SCV001587233 pathogenic not provided 2020-09-30 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MSH3 are known to be pathogenic (PMID: 27476653). This variant has not been reported in the literature in individuals with MSH3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys526*) in the MSH3 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003458693 SCV004189155 pathogenic Familial adenomatous polyposis 4 2023-08-30 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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