ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1476A>C (p.Gly492=)

gnomAD frequency: 0.00045  dbSNP: rs111683983
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001187312 SCV000319323 likely benign Familial thoracic aortic aneurysm and aortic dissection 2014-09-30 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.
GeneDx RCV000424322 SCV000512691 benign not specified 2016-03-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000477513 SCV000554705 likely benign Ehlers-Danlos syndrome, type 4 2025-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001187312 SCV001354080 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424322 SCV003844345 benign not specified 2023-02-05 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV000477513 SCV004832446 likely benign Ehlers-Danlos syndrome, type 4 2024-02-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004542941 SCV004768217 likely benign COL3A1-related disorder 2020-02-17 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.