ClinVar Miner

Submissions for variant NM_001849.3(COL6A2):c.1870G>A (p.Glu624Lys) (rs387906607)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726381 SCV000701376 uncertain significance not provided 2018-03-02 criteria provided, single submitter clinical testing
Invitae RCV000822059 SCV000962843 uncertain significance Bethlem myopathy 1 2018-10-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 624 of the COL6A2 protein (p.Glu624Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with Ullrich congenital muscular dystrophy (PMID: 20106987). ClinVar contains an entry for this variant (Variation ID: 29640). Experimental studies have shown that this missense change adversely impacts protein function (PMID: 20106987). 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.
OMIM RCV000022488 SCV000043777 pathogenic Ullrich congenital muscular dystrophy 1 2010-03-26 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.