ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4041G>A (p.Gln1347=) (rs63751111)

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
Medical Genetics UMG,Mater Domini University Hospital/ Magna Graecia University of Catanzaro RCV000786044 SCV000864171 pathogenic Pseudoxanthoma elasticum criteria provided, single submitter clinical testing c.4041 G>A variant affects the splicing of exon 28 of ABCC6 gene generating an mRNA with a skipped exon 28 (our in vitro study). In vitro functional studies indicate the significance of exon 28 of ABCC6 because a significant decrease in the ABCC6 transport activity was detected in three mutants generated with changes in residues encoded by the exon 28 (PMID:11880368). This variant has a frequency of 2/241074 alleles in the gnomAD database. This variant is present in a homozygous state in two affected siblings and their heterozygous parents are not affected.

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.