ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2033dup (p.Thr679fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002861835 SCV003221441 pathogenic Hereditary diffuse gastric adenocarcinoma 2022-07-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr679Aspfs*9) in the CDH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). For these reasons, this variant has been classified as Pathogenic.

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