Submissions for variant NC_000016.10:g.(?_68737292)_(68738411_?)del

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000459475	SCV000563853	pathogenic	Hereditary diffuse gastric adenocarcinoma	2016-09-20	criteria provided, single submitter	clinical testing	This variant is a gross deletion of the genomic region encompassing exons 1-2 of the CDH1 gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 2 of the CDH1 gene. This is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH1 are known to be pathogenic. A similar deletion of exons 1-2 has been reported in the literature in an individual affected with diffuse gastric cancer (PMID: 19168852). For these reasons, this variant has been classified as Pathogenic.
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto	RCV003229764	SCV003927017	pathogenic	Hereditary diffuse gastric adenocarcinoma	2022-08-01	criteria provided, single submitter	clinical testing	PVS1; PS4; PM2 (PMID: 30311375)