ClinVar Miner

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

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Total submissions: 1
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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.

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