ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.656del (p.Pro219fs) (rs1555515284)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneID Lab - Advanced Molecular Diagnostics RCV000578321 SCV000680444 likely pathogenic Hereditary diffuse gastric cancer 2017-09-07 criteria provided, single submitter clinical testing
Invitae RCV000578321 SCV000760825 pathogenic Hereditary diffuse gastric cancer 2018-09-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro219Leufs*31) in the CDH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CDH1-related disease. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759015 SCV000888037 likely pathogenic not provided 2018-03-01 criteria provided, single submitter clinical testing

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