ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1382_1389del (p.Pro461fs)

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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 RCV003513005 SCV004262099 pathogenic Hereditary diffuse gastric adenocarcinoma 2024-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro461Argfs*19) 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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