ClinVar Miner

Submissions for variant NM_001171.5(ABCC6):c.4254G>A (p.Arg1418=) (rs58668703)

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
Invitae RCV000887941 SCV001031536 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PXE International RCV000499190 SCV000589116 pathogenic Pseudoxanthoma elasticum no assertion criteria provided research
Reproductive Health Research and Development,BGI Genomics RCV000499190 SCV001142457 likely benign Pseudoxanthoma elasticum 2020-01-06 no assertion criteria provided curation NM_001171.5:c.4254G>A in the ABCC6 gene has an allele frequency of 0.012 in European (non-Finnish) subpopulation in the gnomAD database. It is a synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence nor the creation of a new splice site and the nucleotide is not highly conserved. Schulza et al reported six patients with abdominal aortic aneurysm. Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BP7.

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.