ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.801del (p.Phe267fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477152 SCV004220845 pathogenic not provided 2023-01-11 criteria provided, single submitter clinical testing This frameshift variant alters the translational reading frame of the CDH1 mRNA and causes the premature termination of CDH1 protein synthesis. The variant has not been reported in individuals with CDH1-related diseases in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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