ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter)

dbSNP: rs1596960368
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001012323 SCV001172756 pathogenic Hereditary cancer-predisposing syndrome 2019-12-05 criteria provided, single submitter clinical testing The p.W532* pathogenic mutation (also known as c.1595G>A), located in coding exon 11 of the CDH1 gene, results from a G to A substitution at nucleotide position 1595. This changes the amino acid from a tryptophan to a stop codon within coding exon 11. This alteration has been identified in an individual with diffuse gastric cancer (Benusiglio PR et al. J. Med. Genet., 2013 Jul;50:486-9). In addition to the clinical data presented in the literature, 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.
European Reference Network on Genetic Tumour Risk Syndromes (ERN-GENTURIS), i3s - Instituto de Investigação e Inovação em Saúde, University of Porto RCV003229609 SCV003926822 pathogenic Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PVS1; PS4_Supporting; PM2 (PMID: 30311375)
Myriad Genetics, Inc. RCV003229609 SCV004044830 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-14 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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