ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4066G>A (p.Ala1356Thr)

gnomAD frequency: 0.00066  dbSNP: rs147868179
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
GeneDx RCV001705095 SCV000249827 likely benign not provided 2019-12-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311039 SCV000319821 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-17 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 RCV002229053 SCV000631512 likely benign Ehlers-Danlos syndrome, classic type, 1 2025-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907716 SCV004722951 likely benign COL5A1-related disorder 2019-06-13 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.