ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1651G>T (p.Glu551Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto 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.

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