ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2029dup (p.Gln677fs)

dbSNP: rs1555517100
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen CDH1 Variant Curation Expert Panel RCV003328417 SCV001142226 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-04 reviewed by expert panel curation The c.2029dup (p.Gln677ProfsTer11) variant is predicted to result in a premature stop codon that leads to nonsense mediate decay (PVS1 and PM5_supporting). The variant is absent in the gnomAD cohort (PM2_supporting; http://gnomad.broadinstitute.org). Therefore, this variant meets criteria to be classified as pathogenic based on the ACMG/AMP criteria applied as specified by the CDH1 Variant Curation Expert Panel (CDH1 VCEP specifications version 3.1): PVS1, PM2_supporting, PM5_supporting.
Ambry Genetics RCV000566615 SCV000669051 pathogenic Hereditary cancer-predisposing syndrome 2016-10-27 criteria provided, single submitter clinical testing The c.2029dupC pathogenic mutation, located in coding exon 13 of the CDH1 gene, results from a duplication of C at nucleotide position 2029, causing a translational frameshift with a predicted alternate stop codon (p.Q677Pfs*11). 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.
Myriad Genetics, Inc. RCV003335511 SCV004044474 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-15 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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