ClinVar Miner

Submissions for variant NC_000016.9:g.(?_68835567)_(68835802_?)dup

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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 RCV000534099 SCV000637679 likely pathogenic Hereditary diffuse gastric adenocarcinoma 2017-05-26 criteria provided, single submitter clinical testing This variant is a gross duplication of the genomic region encompassing exon 3 of the CDH1 gene. While the exact position of the duplicated exon cannot be determined from this data, the duplicated copy of this region is likely in tandem and may result in an absent or disrupted protein product. While duplications of exon 3 have not been reported in the literature, loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). In summary, sub-genic duplications are generally in tandem (PMID: 25640679), and result in an absent or disrupted protein. However, the exact location of this duplication has not been confirmed. Therefore, it has been classified as Likely Pathogenic.

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