ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter)

dbSNP: rs1596976243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001015647 SCV001176504 likely pathogenic Hereditary cancer-predisposing syndrome 2019-05-28 criteria provided, single submitter clinical testing The c.2480dupA variant, located in coding exon 16 of the CDH1 gene, results from a duplication of A at nucleotide position 2480, causing a translational frameshift with a predicted alternate stop codon (p.Y827*). Frameshifts are typically deleterious in nature, however, this frameshift occurs at the 3' terminus of CDH1, is not expected to trigger nonsense-mediated mRNA decay, and impacts only the last 56 amino acids of the protein. The exact functional impact of these altered amino acids is unknown at this time; however, the deleted region eliminates the catenin-binding domain, which is important for regulating the stability of cadherin mediated cell-cell adhesion (Ishiyama N et al. Cell 2010 Apr; 141(1):117-28). Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Myriad Genetics, Inc. RCV003336241 SCV004043683 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-15 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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