ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.454_460dup (p.Arg154fs)

dbSNP: rs1131690815
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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 RCV003328375 SCV001244356 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-25 reviewed by expert panel curation The c.454_460dup p.(Arg154Thrfs) variant is predicted to result in a premature stop codon that leads to a truncated or absent protein (PVS1, PM5_Supporting). This variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). One family meets HDGC criteria (PS4_supporting; SCV000580703.3). In summary, 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 (Variant Interpretation Guidelines Version 3.1): PVS1, PM2_Supporting, PS4_supporting, PM5_Supporting.
Ambry Genetics RCV000492486 SCV000580703 pathogenic Hereditary cancer-predisposing syndrome 2014-03-13 criteria provided, single submitter clinical testing ​The c.454_460dupCAGAAGA mutation, located in coding exon 4 of the CDH1 gene, results from a duplication of the nucleotide sequence CAGAAGA from position 454 through position 460, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this variant is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med 2008;10:294).
Myriad Genetics, Inc. RCV003335397 SCV004045466 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-09 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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