ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1223dup (p.Tyr408Ter)

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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 RCV002361900 SCV002656887 pathogenic Hereditary cancer-predisposing syndrome 2019-04-19 criteria provided, single submitter clinical testing The c.1223dupA pathogenic mutation, located in coding exon 7 of the MSH2 gene, results from a duplication of A at nucleotide position 1223, causing a translational frameshift with a predicted alternate stop codon (p.Y408*). 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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