ClinVar Miner

Submissions for variant NM_001848.2(COL6A1):c.957_957+7del (rs1556425687)

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
Invitae RCV000559674 SCV000657085 likely pathogenic Bethlem myopathy 1 2017-04-10 criteria provided, single submitter clinical testing This sequence change deletes 8 nucleotides including a donor splice site in intron 12 of the COL6A1 gene. It is expected to disrupt RNA splicing and likely results in a disrupted protein product. This variant has not been reported in the literature in individuals with a COL6A1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in COL6A1 are known to be pathogenic in autosomal recessive COL6A1-related conditions (PMID: 21280092, 20976770). In addition, donor and acceptor splice site variants in COL6A1 that result in in-frame exon skipping have also been reported to cause autosomal dominant COL6A1-related conditions (PMID: 1788629). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000591927 SCV000701063 pathogenic not provided 2015-12-14 criteria provided, single submitter clinical testing

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.