ClinVar Miner

Submissions for variant NM_002017.5(FLI1):c.203G>T (p.Arg68Leu)

dbSNP: rs201118331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001269403 SCV001449478 uncertain significance Bleeding disorder, platelet-type, 21 2020-11-24 criteria provided, single submitter clinical testing This variant has been reported in a patient presenting with thrombocytopenia. FLI1 c.203G>T (rs201118331) is present in a large population dataset (gnomAD: 81/279110 total alleles; 0.03%; no homozygotes) and has not been reported in ClinVar. Of three bioinformatics tools queried, two predict that the substitution would be tolerated, while one predicts that it would be possibly damaging. The arginine residue at this position is highly evolutionarily conserved across all species assessed. We consider the clinical significance of c.203G>T to be uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002537715 SCV003292564 uncertain significance not provided 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 68 of the FLI1 protein (p.Arg68Leu). This variant is present in population databases (rs201118331, gnomAD 0.05%), and has an allele count higher than expected for a pathogenic variant. This missense change has been observed in individual(s) with thrombocytopenia (PMID: 32987389). ClinVar contains an entry for this variant (Variation ID: 988011). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FLI1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Breakthrough Genomics, Breakthrough Genomics RCV002537715 SCV005191566 uncertain significance not provided criteria provided, single submitter not provided
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV001269403 SCV004171632 uncertain significance Bleeding disorder, platelet-type, 21 2023-11-24 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.