ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)

dbSNP: rs1961170989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050581 SCV001214696 pathogenic Hereditary diffuse gastric adenocarcinoma 2021-03-10 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with CDH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 847107). 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 is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp638*) in the CDH1 gene. It is expected to result in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV001050581 SCV004044180 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV003473642 SCV004210564 likely pathogenic Familial cancer of breast 2022-06-21 criteria provided, single submitter clinical testing

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