ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2432del (p.Thr810_Leu811insTer)

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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 RCV002450462 SCV002735304 pathogenic Hereditary cancer-predisposing syndrome 2019-04-02 criteria provided, single submitter clinical testing The c.2432delT pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 2432, causing a translational frameshift with a predicted alternate stop codon (p.L811*). This mutation, designated 2432del (Leu811X), has been reported in a French family with HNPCC (Bonadona V et al. JAMA, 2011 Jun;305:2304-10). In addition to the clinical data presented in the literature, 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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