ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)

dbSNP: rs121912930
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002513108 SCV003524966 likely pathogenic Ehlers-Danlos syndrome, classic type, 1 2022-03-13 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt COL5A2 protein function. ClinVar contains an entry for this variant (Variation ID: 17198). This missense change has been observed in individual(s) with Ehlers-Danlos syndrome (PMID: 9783710). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs121912930, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1149 of the COL5A2 protein (p.Gly1149Arg).
OMIM RCV000018738 SCV000039021 pathogenic Ehlers-Danlos syndrome, classic type 1998-10-01 no assertion criteria provided literature only

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.