ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.5036G>A (p.Gly1679Glu) (rs121434553)

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 RCV000790696 SCV000331690 likely pathogenic not provided 2016-09-23 criteria provided, single submitter clinical testing
Invitae RCV000018689 SCV001204564 pathogenic Bethlem myopathy 1 2020-10-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1679 of the COL6A3 protein (p.Gly1679Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with autosomal dominant Bethlem myopathy and to segregate with disease in a family (PMID: 9536084, 15689448). ClinVar contains an entry for this variant (Variation ID: 17149). 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: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000018689 SCV000038972 pathogenic Bethlem myopathy 1 1998-05-01 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.