ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)

dbSNP: rs1555517074
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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 RCV003328421 SCV001943354 pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome 2023-08-04 reviewed by expert panel curation The c.1948_1949del p.(Ile650fs) 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 RCV000561883 SCV000669079 pathogenic Hereditary cancer-predisposing syndrome 2022-05-24 criteria provided, single submitter clinical testing The c.1948_1949delAT pathogenic mutation, located in coding exon 13 of the CDH1 gene, results from a deletion of two nucleotides at nucleotide positions 1948 to 1949, causing a translational frameshift with a predicted alternate stop codon (p.I650Hfs*12). 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. RCV003335512 SCV004045286 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-14 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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