ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.2018T>C (p.Leu673Pro) (rs67470842)

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
GeneDx RCV000444456 SCV000517453 pathogenic not provided 2015-06-30 criteria provided, single submitter clinical testing The L673P variant in the ABCC6 gene has been reported previously in the compound heterozygous statein an individual pseudoxanthoma elasticum (PXE) (Le Saux et al., 2001). The L673P substitution was notobserved in any significant frequency in approximately 6500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations; no individuals in this control group were reported as homozygous for this variant. The L673Pvariant is a semi-conservative amino acid substitution, which may impact secondary protein structure asthese residues differ in some properties. This substitution occurs at a position that is conserved acrossspecies, and in silico analysis predicts this variant is probably damaging to the protein structure/function.We interpret L673P as a pathogenic variant.
PXE International RCV000499274 SCV000588988 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research

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.