ClinVar Miner

Submissions for variant NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys)

gnomAD frequency: 0.00006  dbSNP: rs771408008
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
Johns Hopkins Genomics, Johns Hopkins University RCV001353362 SCV001548518 uncertain significance Platelet-type bleeding disorder 17 2021-03-15 criteria provided, single submitter clinical testing GFI1B c.550C>T (rs771408008) is rare (<0.1%) in a large population dataset (gnomAD: 12/282592 total alleles; 00.0042%; no homozygotes). It has not been reported in ClinVar nor the literature to our knowledge. Three bioinformatic tools queried predict that this substitution would be damaging and the arginine residue at this position is evolutionarily conserved across all species assessed except lamprey. We consider the clinical significance of GFI1B c.550C>T to be uncertain at this time.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235558 SCV003933741 uncertain significance not specified 2023-05-24 criteria provided, single submitter clinical testing Variant summary: GFI1B c.550C>T (p.Arg184Cys) results in a non-conservative amino acid change located in the Zinc finger C2H2-type domain (IPR013087) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 4.2e-05 in 282592 control chromosomes (gnomAD). To our knowledge, no occurrence of c.550C>T in individuals affected with Platelet-Type Bleeding Disorder 17 and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter has assessed the variant since 2014: the variant was classified as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV001353362 SCV004013010 uncertain significance Platelet-type bleeding disorder 17 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.