ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1840del (p.Ile614fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003140358 SCV003806603 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-01-18 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Ambry Genetics RCV003162193 SCV003867724 pathogenic Hereditary cancer-predisposing syndrome 2022-11-17 criteria provided, single submitter clinical testing The c.1840delA pathogenic mutation, located in coding exon 12 of the CDH1 gene, results from a deletion of one nucleotide at nucleotide position 1840, causing a translational frameshift with a predicted alternate stop codon (p.I614Sfs*17). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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