ClinVar Miner

Submissions for variant NM_002439.5(MSH3):c.2791delinsTC (p.Ile931fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441429 SCV002751747 pathogenic Hereditary cancer-predisposing syndrome 2021-10-06 criteria provided, single submitter clinical testing The c.2791delAinsTC pathogenic mutation, located in coding exon 20 of the MSH3 gene, results from the deletion of one nucleotide and insertion of two nucleotides causing a translational frameshift with a predicted alternate stop codon (p.I931Sfs*17). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003458866 SCV004189094 pathogenic Familial adenomatous polyposis 4 2023-08-31 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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