ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) (rs142085247)

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
Blueprint Genetics, RCV000157140 SCV000206863 uncertain significance Thoracic aortic aneurysm and aortic dissection 2014-08-14 no assertion criteria provided clinical testing
CSER_CC_NCGL; University of Washington Medical Center RCV000148460 SCV000190159 uncertain significance Ehlers-Danlos syndrome, type 4 2014-06-01 no assertion criteria provided research
Color RCV000157140 SCV000913713 likely benign Thoracic aortic aneurysm and aortic dissection 2018-10-19 criteria provided, single submitter clinical testing
GeneDx RCV000212483 SCV000233327 likely benign not specified 2017-03-20 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.
Integrated Genetics/Laboratory Corporation of America RCV000586347 SCV000695354 likely benign not provided 2017-05-22 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.1550C>T (p.Pro517Leu) variant involves the alteration of a conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in 18/22204 control chromosomes at a frequency of 0.0008107, which is approximately 649 times the estimated maximal expected allele frequency of a pathogenic COL3A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. This variant has been identified in one patient with vascular Ehlers-Danlos syndrome, who also carries COL3A1 p.G912A (classified as causal in the paper, Drera_2011). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. Taken together, this variant is classified as likely benign.
Invitae RCV000148460 SCV000283454 likely benign Ehlers-Danlos syndrome, type 4 2017-11-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000212483 SCV000302018 likely benign not specified criteria provided, single submitter 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.