ClinVar Miner

Submissions for variant NM_133259.4(LRPPRC):c.1177T>G (p.Tyr393Asp)

dbSNP: rs863224054
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 RCV000200464 SCV000251668 uncertain significance not provided 2016-11-16 criteria provided, single submitter clinical testing p.Tyr393Asp (TAC>GAC): c.1177 T>G in exon 10 in the LRPPRC gene (NM_133259.3). The Y393D variant in the LRPPRC gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The Y393D variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Y393D 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 in mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret Y393D as a variant of unknown significance.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985153 SCV001133145 likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 2019-09-26 no assertion criteria provided 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.