ClinVar Miner

Submissions for variant NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys)

gnomAD frequency: 0.00002  dbSNP: rs761027478
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
Center for Medical Genetics Ghent, University of Ghent RCV001260237 SCV001437205 pathogenic Brittle cornea syndrome 2 2020-08-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV003166589 SCV003913020 uncertain significance Cardiovascular phenotype 2022-11-04 criteria provided, single submitter clinical testing The p.R83C variant (also known as c.247C>T), located in coding exon 3 of the PRDM5 gene, results from a C to T substitution at nucleotide position 247. The arginine at codon 83 is replaced by cysteine, an amino acid with highly dissimilar properties. This alteration has been reported in a homozygous state in a subject with features of brittle cornea syndrome (Dhooge T et al. Hum Mutat, 2021 06;42:711-730). This alteration has also been reported in a brittle cornea syndrome cohort (Porter LF et al. Hum Mol Genet, 2015 Dec;24:6565-79). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.