ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup)

dbSNP: rs773994971
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000824723 SCV000338982 uncertain significance not provided 2016-02-08 criteria provided, single submitter clinical testing
GeneDx RCV000824723 SCV000718140 likely benign not provided 2020-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314016 SCV000738636 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-01-13 criteria provided, single submitter clinical testing The c.82_84dupCTG variant (also known as p.L28dup), located in coding exon 1 of the COL5A1 gene, results from an in-frame duplication of CTG at nucleotide positions 82 to 84. This results in the duplication of an extra residue between codons 28 and 29. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV002229747 SCV000755946 uncertain significance Ehlers-Danlos syndrome, classic type, 1 2024-01-31 criteria provided, single submitter clinical testing This variant, c.82_84dup, results in the insertion of 1 amino acid(s) of the COL5A1 protein (p.Leu28dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (no rsID available, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with COL5A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 285805). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278295 SCV002565791 uncertain significance Ehlers-Danlos syndrome 2020-07-01 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.