ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1269del (p.Phe423fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002877535 SCV003239606 pathogenic Hereditary diffuse gastric adenocarcinoma 2022-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe423Leufs*8) 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).
Baylor Genetics RCV003464630 SCV004215748 likely pathogenic Familial cancer of breast 2023-03-22 criteria provided, single submitter clinical testing

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