ClinVar Miner

Submissions for variant NC_000016.10:g.(?_68801670)_(68801893_?)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 RCV000468288 SCV000563854 pathogenic Hereditary diffuse gastric adenocarcinoma 2016-07-02 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon 3 of the CDH1 gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH1 are known to be pathogenic. A deletion of exon 3 has been reported in the literature in a family with gastric cancer (PMID: 21777349). Experimental studies have shown that this exon deletion impairs the cell-cell adhesion function of CDH1 (PMID: 21777349). For these reasons, this variant has been classified as Pathogenic.

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