ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2216dup (p.Asn739fs)

dbSNP: rs1580035033
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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 RCV000801643 SCV000941429 pathogenic not provided 2024-05-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn739Lysfs*29) 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, 37402566). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH3-related conditions. ClinVar contains an entry for this variant (Variation ID: 647193). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003458529 SCV004189092 pathogenic Familial adenomatous polyposis 4 2023-08-30 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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