ClinVar Miner

Submissions for variant NC_000016.10:g.(?_68787043)_(68833499_?)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 RCV001032978 SCV001196285 pathogenic Hereditary diffuse gastric adenocarcinoma 2019-12-28 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 3-16 of the CDH1 gene. The 5' boundary is likely confined to intron 2. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated protein product or disrupt mRNA translation. This variant has not been reported in the literature in individuals with CDH1-related conditions. Sub-genic deletion of exon 16 has been determined to be pathogenic (PMID: 19168852, 22850631, Invitae). Therefore, deletions that fully encompass that region are also expected to be pathogenic. For these reasons, this variant has been classified as Pathogenic.

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