ClinVar Miner

Submissions for variant NM_004360.5(CDH1):c.582C>T (p.Gly194=)

gnomAD frequency: 0.00001  dbSNP: rs786202924
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165995 SCV000216753 likely benign Hereditary cancer-predisposing syndrome 2014-10-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000228764 SCV000288488 likely benign Hereditary diffuse gastric adenocarcinoma 2024-01-04 criteria provided, single submitter clinical testing
Counsyl RCV000228764 SCV000488814 likely benign Hereditary diffuse gastric adenocarcinoma 2016-06-22 criteria provided, single submitter clinical testing
GeneDx RCV001704208 SCV000512508 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165995 SCV000684470 likely benign Hereditary cancer-predisposing syndrome 2016-07-12 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001818387 SCV002068111 likely benign not specified 2020-05-01 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000228764 SCV004019565 benign Hereditary diffuse gastric adenocarcinoma 2023-03-03 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
PreventionGenetics, part of Exact Sciences RCV003965211 SCV004778354 likely benign CDH1-related disorder 2022-12-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.