ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002347607 SCV002647580 pathogenic Hereditary cancer-predisposing syndrome 2022-03-18 criteria provided, single submitter clinical testing The p.Y190* pathogenic mutation (also known as c.570C>G), located in coding exon 5 of the CDH1 gene, results from a C to G substitution at nucleotide position 570. This changes the amino acid from a tyrosine to a stop codon within coding exon 5. 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.
Myriad Genetics, Inc. RCV003336557 SCV004044925 pathogenic Hereditary diffuse gastric adenocarcinoma 2023-06-09 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.
Baylor Genetics RCV003475352 SCV004210560 likely pathogenic Familial cancer of breast 2022-09-21 criteria provided, single submitter clinical testing
Invitae RCV003336557 SCV004260961 pathogenic Hereditary diffuse gastric adenocarcinoma 2024-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr190*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CDH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1749207). For these reasons, this variant has been classified as Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.