ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1401dup (p.Thr468fs)

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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 RCV002389290 SCV002696766 pathogenic Hereditary cancer-predisposing syndrome 2020-07-24 criteria provided, single submitter clinical testing The c.1401dupC pathogenic mutation, located in coding exon 10 of the CDH1 gene, results from a duplication of C at nucleotide position 1401, causing a translational frameshift with a predicted alternate stop codon (p.T468Hfs*15). 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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