ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1832del (p.Val611fs)

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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 RCV002412669 SCV002716308 pathogenic Hereditary cancer-predisposing syndrome 2018-08-23 criteria provided, single submitter clinical testing The c.1832delT pathogenic mutation, located in coding exon 12 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1832, causing a translational frameshift with a predicted alternate stop codon (p.V611Gfs*24). This alteration has been reported as a somatic mutation identified in a colorectal adenocarcinoma with high microsatellite instability and loss of MSH2 and MSH6 by immunohisotchemistry (Haraldsdottir S et al. Gastroenterology, 2014 Dec;147:1308-1316.e1). 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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