ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.1434C>A (p.Gly478=)

dbSNP: rs756412829
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002088249 SCV002372530 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2021-04-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002391216 SCV002696217 likely benign Cardiovascular phenotype 2021-04-28 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.
CeGaT Center for Human Genetics Tuebingen RCV003458125 SCV004185463 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing COL1A2: PM2:Supporting, BP4, BP7

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.