ClinVar Miner

Submissions for variant NC_000016.10:g.(?_68801660)_(68801903_?)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 RCV000793473 SCV000932825 pathogenic Hereditary diffuse gastric adenocarcinoma 2022-06-27 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the CDH1 gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). A similar copy number variant has been observed in individual(s) with gastric cancer (PMID: 21777349). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that a similar copy number variant affects CDH1 function (PMID: 21777349). For these reasons, this variant has been classified as Pathogenic.

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