ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) (rs41263757)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000588600 SCV000885230 benign not provided 2017-06-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617673 SCV000738438 benign Cardiovascular phenotype 2016-01-12 criteria provided, single submitter clinical testing
Color RCV000771147 SCV000902960 benign Thoracic aortic aneurysm and aortic dissection 2018-03-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000124406 SCV000339657 benign not specified 2016-02-26 criteria provided, single submitter clinical testing
GeneDx RCV000124406 SCV000167839 benign not specified 2013-05-09 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.
Illumina Clinical Services Laboratory,Illumina RCV000229097 SCV000425521 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588600 SCV000695361 benign not provided 2017-02-06 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.1927T>C (p.Leu643Leu) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may create a novel ESE site of SF2/ASF. However, these predictions have yet to be confirmed by functional studies. This variant was found in 284/116860 control chromosomes (2 homozygotes) at a frequency of 0.0024303, which is approximately 1944 times the estimated maximal expected allele frequency of a pathogenic COL3A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV000229097 SCV000283456 benign Ehlers-Danlos syndrome, type 4 2017-12-06 criteria provided, single submitter clinical testing
PreventionGenetics RCV000124406 SCV000302026 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.