ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1805_1806delinsAG (p.Phe602Ter)

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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 RCV003512389 SCV004250997 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe602*) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with CDH1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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