Submissions for variant NM_004360.5(CDH1):c.144_151dup (p.Val51fs)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003029448	SCV003328523	pathogenic	Hereditary diffuse gastric adenocarcinoma	2022-08-03	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Val51Glufs*8) in the CDH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with CDH1-related conditions. This variant is not present in population databases (gnomAD no frequency).
Ambry Genetics	RCV003170899	SCV003867771	pathogenic	Hereditary cancer-predisposing syndrome	2023-03-10	criteria provided, single submitter	clinical testing	The c.144_151dupAGGCCGCG pathogenic mutation, located in coding exon 2 of the CDH1 gene, results from a duplication of AGGCCGCG at nucleotide position 144, causing a translational frameshift with a predicted alternate stop codon (p.V51Efs*8). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.