ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)

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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. RCV003316954 SCV004017783 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-04-06 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
PreventionGenetics, part of Exact Sciences RCV003901010 SCV004710553 pathogenic CDH1-related disorder 2024-01-29 no assertion criteria provided clinical testing The CDH1 c.1541_1565delinsTGTAGT variant is predicted to result in a frameshift and premature protein termination (p.Asp514Valfs*2). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant has been classified as pathogenic in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/2573265/). Frameshift variants in CDH1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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