ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.2295+4_2439+1343del

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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 RCV001205388 SCV001376642 uncertain significance Hereditary diffuse gastric adenocarcinoma 2019-06-27 criteria provided, single submitter clinical testing This variant is an in-frame deletion of the genomic region encompassing exon 15 of the CDH1 gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with CDH1-related conditions. This variant removes 48 amino acids (residues 766-813) from the cytoplasmic tail of E-cadherin, deleting part of the p120-catenin binding region (residues 736-781) and part of the Hakai binding region (residues 734-798) of E-cadherin (PMID: 19268661, 22850631, 20371349, 29231860, 27624909). These two regions are involved in E-cadherin membrane trafficking and protein turnover. However, functional studies have not been performed to directly test the effects of this variant on CDH1 protein function, and the clinical significance of this variant remains uncertain. 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.

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