ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1269del (p.Lys423fs)

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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 RCV002449821 SCV002682724 pathogenic Hereditary cancer-predisposing syndrome 2019-06-25 criteria provided, single submitter clinical testing The c.1269delA pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a deletion of one nucleotide at nucleotide position 1269, causing a translational frameshift with a predicted alternate stop codon (p.K423Nfs*15). This variant has been reported in one Danish Lynch syndrome family (Nilbert M et al. Fam. Cancer, 2009 Jun;8:75-83). 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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