ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.1272C>T (p.Val424=)

gnomAD frequency: 0.00143  dbSNP: rs61756284
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 21
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212363 SCV000167593 benign not specified 2014-01-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000124179 SCV000212843 benign Hereditary cancer-predisposing syndrome 2019-10-07 criteria provided, single submitter clinical testing In silico models in agreement (benign);RNA Studies;Subpopulation frequency in support of benign classification
Invitae RCV001083285 SCV000252790 benign Hereditary diffuse gastric adenocarcinoma 2021-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000488346 SCV000575056 likely benign not provided 2017-01-01 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000124179 SCV000684348 likely benign Hereditary cancer-predisposing syndrome 2015-10-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000488346 SCV000698357 benign not provided 2016-06-20 criteria provided, single submitter clinical testing Variant summary: The CDH1 c.1272C>T (p.Val424Val) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 94/121412 (1/1292), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic CDH1 variant of 1/35336 (0.0000283), suggesting this variant is likely a benign polymorphism. Mulitple reputable clinical laboratories cite the variant as "likely benign/benign." Therefore, taking all available lines of evidence into consideration and based on the high allele frequency in the general population, the variant of interest has been classified as Benign.
PreventionGenetics,PreventionGenetics RCV000488346 SCV000806634 likely benign not provided 2017-02-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000488346 SCV000883549 benign not provided 2020-03-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000488346 SCV000889245 benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV001762282 SCV002009864 likely benign Familial cancer of breast 2021-11-03 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV001798417 SCV002043249 likely benign Breast and/or ovarian cancer 2021-04-13 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000212363 SCV002064828 likely benign not specified 2022-01-04 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000124179 SCV002531154 benign Hereditary cancer-predisposing syndrome 2021-01-09 criteria provided, single submitter curation
Mayo Clinic Laboratories,Mayo Clinic RCV000212363 SCV000691819 likely benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000124179 SCV000787974 likely benign Hereditary cancer-predisposing syndrome 2017-10-11 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000488346 SCV001742115 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000212363 SCV001809278 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000212363 SCV001923364 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000212363 SCV001953596 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000212363 SCV001968963 benign not specified no assertion criteria provided clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000212363 SCV002551770 likely benign not specified 2021-12-07 no assertion criteria provided clinical testing

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.