Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
European Reference Network on Genetic Tumour Risk Syndromes |
RCV003229702 | SCV003926825 | pathogenic | Hereditary diffuse gastric adenocarcinoma | 2022-08-01 | criteria provided, single submitter | clinical testing | PVS1; PS4_Supporting; PM2 (PMID: 30311375) |
Ambry Genetics | RCV004285635 | SCV005022332 | pathogenic | Hereditary cancer-predisposing syndrome | 2024-01-14 | criteria provided, single submitter | clinical testing | The p.E551* variant (also known as c.1651G>T), located in coding exon 11 of the CDH1 gene, results from a G to T substitution at nucleotide position 1651. This changes the amino acid from a glutamic acid to a stop codon within coding exon 11. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Additionally, this variant was reported in multiple individuals with features consistent with CDH1-related diffuse gastric and lobular breast cancer (Garcia-Pelaez J et al. Lancet Oncol 2023 Jan;24(1):91-106; Marwitz T et al. Cancers (Basel) 2020 Dec;12(12)). As such, this alteration is interpreted as a disease-causing mutation. |