ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.1056+4A>G

dbSNP: rs886043433
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
Eurofins Ntd Llc (ga) RCV000377484 SCV000340089 uncertain significance not provided 2016-03-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000377484 SCV003833796 uncertain significance not provided 2019-12-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003517173 SCV004298807 likely pathogenic Bethlem myopathy 1A 2024-07-06 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the COL6A1 gene. It does not directly change the encoded amino acid sequence of the COL6A1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of autosomal dominant COL6A1-related conditions (PMID: 27447704, 30564623). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 286598). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.