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 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. This variant is not present in population databases (ExAC no frequency). 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 variant has not been reported in the literature in individuals with CDH1-related conditions.

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