ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.1017_1018insC (p.Ile340fs)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002857409 SCV003226172 pathogenic not provided 2024-09-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile340Hisfs*13) 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: 2020610). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003458883 SCV004189191 pathogenic Familial adenomatous polyposis 4 2023-08-29 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV003464616 SCV004197545 likely pathogenic Endometrial carcinoma 2021-09-06 criteria provided, single submitter clinical testing

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