ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2577T>A (p.Tyr859Ter)

dbSNP: rs765545887
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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 RCV001237616 SCV001410382 uncertain significance Hereditary diffuse gastric adenocarcinoma 2019-11-11 criteria provided, single submitter clinical testing 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 conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change results in a premature translational stop signal in the CDH1 gene (p.Tyr859*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 24 amino acids of the CDH1 protein.

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