ClinVar Miner

Submissions for variant NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001249754 SCV001423787 likely pathogenic Collagen VI-related myopathy 2019-12-16 criteria provided, single submitter clinical testing The COL6A2 c.1072G>T (p.Gly358Trp) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database despite good sequence coverage, so the variant is presumed to be rare. The Gly358 residue lies in the triple helical domain of COL6A2 and is a part of a conserved Gly-X-Y motif (Lampe et al. 2004; Butterfield et al. 2013). Substitutions of the glycines in the conserved Gly-X-Y motif in the triple helical domain of collagen VI are the most commonly identified mutations in the collagen VI myopathies. Based on the available evidence and application of ACMG criteria, the p.Gly358Trp variant is classified as likely pathogenic for collagen type VI-related disorders.

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.