ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.348_351dup (p.Thr118fs)

dbSNP: rs2152126989
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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 RCV001878415 SCV002121665 pathogenic Hereditary diffuse gastric adenocarcinoma 2021-05-25 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CDH1-related conditions. This sequence change creates a premature translational stop signal (p.Thr118Glufs*51) 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).

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