ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.67C>T (p.Gln23Ter)

dbSNP: rs1962456814
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001216821 SCV001388634 pathogenic Hereditary diffuse gastric adenocarcinoma 2020-02-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CDH1 are known to be pathogenic (PMID: 15235021, 20373070). This variant has been observed in an individual affected with hereditary diffuse gastric cancer (PMID: 28688938). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln23*) in the CDH1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV002365978 SCV002661842 pathogenic Hereditary cancer-predisposing syndrome 2021-04-30 criteria provided, single submitter clinical testing The p.Q23* pathogenic mutation (also known as c.67C>T), located in coding exon 2 of the CDH1 gene, results from a C to T substitution at nucleotide position 67. This changes the amino acid from a glutamine to a stop codon within coding exon 2. This alteration was identified in an individual whose personal and/or family history met clinical criteria for a diagnosis of hereditary diffuse gastric cancer (Mi EZ et al. Gastrointest Endosc. 2018 02;87:408-418). This variant was also identified in 1/292 individuals with breast cancer (Xie Y et al. Clin Genet. 2018 Jan;93:41-51). 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 RCV001216821 SCV003926904 pathogenic Hereditary diffuse gastric adenocarcinoma 2022-08-01 criteria provided, single submitter clinical testing PVS1; PS4_Supporting; PM2 (PMID: 30311375)
Myriad Genetics, Inc. RCV001216821 SCV004043422 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-08 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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