ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1341_1343delinsTCAGGAAATGATAGAAA (p.Ser448fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002387715 SCV002691903 pathogenic Hereditary cancer-predisposing syndrome 2021-04-23 criteria provided, single submitter clinical testing The c.1341_1343delCTCins17 pathogenic mutation, located in coding exon 8 of the MSH2 gene, results from the deletion of 3 nucleotides and insertion of 17 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.S448Qfs*24). 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.

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