ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.150_151dup (p.Val51fs)

dbSNP: rs2152114474
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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 RCV001384376 SCV001583835 pathogenic Hereditary diffuse gastric adenocarcinoma 2020-08-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). This variant has not been reported in the literature in individuals with CDH1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val51Alafs*6) in the CDH1 gene. It is expected to result in an absent or disrupted protein product.

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