ClinVar Miner

Submissions for variant NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) (rs751749989)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726352 SCV000344016 uncertain significance not provided 2016-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000726352 SCV000572182 uncertain significance not provided 2016-11-15 criteria provided, single submitter clinical testing The P3T variant in the COL4A1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P3T variant was not observed with any significant frequency in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. The P3T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across mammalian species. However, in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret P3T as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000763878 SCV000894813 uncertain significance Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with hemorrhage; Porencephaly 1; SCHIZENCEPHALY; Hemorrhage, intracerebral, susceptibility to; Retinal arteries, tortuosity of 2018-10-31 criteria provided, single submitter clinical testing

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.