ClinVar Miner

Submissions for variant NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) (rs150165484)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000657932 SCV000112895 uncertain significance not provided 2017-03-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000282178 SCV000428751 likely benign Collagen VI-related myopathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000545324 SCV000657393 likely benign Bethlem myopathy 1 2018-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000657932 SCV000779701 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the COL6A3 gene. The R2420W variant has been reported previously in a single individual with focal dystonia; however, additional clinical history and information about parental testing was not provided (Zech et al., 2015). The R2420W variant is observed in 74/23428 (0.3%) alleles from individuals of Finnish background in large population cohorts (Lek et al., 2016). The R2420W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.