ClinVar Miner

Submissions for variant NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn)

gnomAD frequency: 0.00004  dbSNP: rs760490617
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002099540 SCV002323859 likely benign Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 2023-10-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002324517 SCV002605596 uncertain significance Cardiovascular phenotype 2021-12-15 criteria provided, single submitter clinical testing The p.D1113N variant (also known as c.3337G>A), located in coding exon 49 of the COL1A2 gene, results from a G to A substitution at nucleotide position 3337. The aspartic acid at codon 1113 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.