ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2855G>A (p.Arg952His)

gnomAD frequency: 0.00011  dbSNP: rs139264859
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002234449 SCV000755950 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000997626 SCV001153241 uncertain significance not provided 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000997626 SCV001766555 uncertain significance not provided 2021-02-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; Stenson et al., 2014); Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 529265; Landrum et al., 2016)
Preventiongenetics, part of Exact Sciences RCV003411508 SCV004106472 uncertain significance COL5A2-related condition 2023-04-13 criteria provided, single submitter clinical testing The COL5A2 c.2855G>A variant is predicted to result in the amino acid substitution p.Arg952His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-189916122-C-T). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.