ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5387C>T (p.Ala1796Val)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000732612 SCV000860587 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
Invitae RCV000795206 SCV000934652 uncertain significance Bethlem myopathy 1 2018-11-29 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1796 of the COL6A3 protein (p.Ala1796Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs772890888, ExAC 0.03%). This variant has not been reported in the literature in individuals with COL6A3-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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.