ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.710_715delinsAAAGGTTCCACAAA (p.Ile237fs)

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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 RCV002367370 SCV002666866 pathogenic Hereditary cancer-predisposing syndrome 2021-04-21 criteria provided, single submitter clinical testing The c.710_715delTTTATCins14 variant, located in coding exon 4 of the MSH2 gene, results from the deletion of 6 nucleotides and insertion of 14 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.I237Kfs*12). 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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