ClinVar Miner

Submissions for variant NC_000016.9:g.(?_68857534)_(68864665_?)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 RCV001972870 SCV002243206 pathogenic Hereditary diffuse gastric adenocarcinoma 2021-08-22 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 14-15 of the CDH1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individual(s) with hereditary diffuse gastric cancer syndrome (Invitae). ClinVar contains an entry for this variant (Variation ID: 845399). The region of the CDH1 gene that includes exon(s) 14-16 has been determined to be clinically significant (Invitae). Therefore, deletions that encompass that region are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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