ClinVar Miner

Submissions for variant NM_004370.6(COL12A1):c.7840+1G>A

dbSNP: rs875989819
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001852431 SCV002230776 pathogenic Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 2024-04-06 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 50 of the COL12A1 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with autosomal recessive COL12A1-related conditions (PMID: 24334604). It has also been observed to segregate with disease in related individuals. This variant is also known as c.8006+1G>A. ClinVar contains an entry for this variant (Variation ID: 204294). Studies have shown that disruption of this splice site results in exon skipping and introduces a premature termination codon (PMID: 24334604). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000186498 SCV000239878 pathogenic Ullrich congenital muscular dystrophy 2 2014-05-01 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.