ClinVar Miner

Submissions for variant NM_001171.6(ABCC6):c.1091C>G (p.Thr364Arg)

dbSNP: rs72653759
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
GeneDx RCV001782996 SCV002599640 likely pathogenic not provided 2022-10-31 criteria provided, single submitter clinical testing Published functional studies demonstrated protein instability and defective intracellular trafficking (Saeidian et al., 2022); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 17617515, 11702217, 15459974, 34205333, 32873932, 34906475, 16086317)
Fulgent Genetics, Fulgent Genetics RCV002496916 SCV002813227 likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 2021-09-02 criteria provided, single submitter clinical testing
PXE International RCV000499010 SCV000588946 pathogenic Autosomal recessive inherited pseudoxanthoma elasticum 2021-03-01 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.