ClinVar Miner

Submissions for variant NC_000016.10:g.(?_68787043)_(68801903_?)del

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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 RCV001033476 SCV001196783 pathogenic Hereditary diffuse gastric adenocarcinoma 2019-12-30 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing exon 3 of the CDH1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A deletion of exon 3 has been reported in the literature in a family with gastric cancer (PMID: 21777349). Experimental studies have shown that exon 3 deletion impairs the cell cell adhesion function of CDH1 (PMID: 21777349). Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). For these reasons, this variant has been classified as Pathogenic.

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