ClinVar Miner

Submissions for variant NM_004360.3(CDH1):c.388-?_*2042+?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 RCV000203923 SCV000261273 pathogenic Hereditary diffuse gastric adenocarcinoma 2016-11-18 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exons 4-16 of the CDH1 gene. The 5' boundary is likely confined to intron 3. 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 result in the loss of approximately 85% of the CDH1 coding sequencere. While this particular deletion has not been reported in the literature, smaller gross deletions including the last exon in CDH1 have been reported in individuals with hereditary diffuse gastric cancer: a deletion of exons 7-16 (PMID: 24037103), a deletion of exons 14-16 (PMID: 19168852), and a deletion of exon 16 (PMID: 19168852). This gross deletion is expected to result in the loss of multiple functional domains of the CDH1 protein (PMID: 20233471). For these reasons, this variant has been classified as Pathogenic.

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