ClinVar Miner

Submissions for variant NM_000132.4(F8):c.2150G>T (p.Arg717Leu)

dbSNP: rs942909873
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002223108 SCV002500864 pathogenic Hereditary factor VIII deficiency disease criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002223108 SCV004175478 uncertain significance Hereditary factor VIII deficiency disease 2023-04-14 criteria provided, single submitter clinical testing The F8 c.2150G>T variant is classified as VUS (PS4_Supp, PM2, PM5-supp, PP3) The F8 c.2150G>T variant is a single nucleotide change in exon 14/26 of the F8 gene, which is predicted to change the amino acid arginine at position 717 in the protein to leucine. The variant has been reported in 2 index cases with a clinical presentation of mild haemophilia, one of which demonstrated one-stage/two-stage assay discrepancy (PMID: 8759905, 16173970 (PS4_Supporting). This variant is absent from population databases (PM2). This variant is a missense change at an amino acid residue where a different missense change, c.2149C>T(p.Arg717Trp) and c.2150G>A (p.Arg717Gln), has been seen before (PM5-supp). in silico pathogenicity predicts suggest that the variant has a deleterious effect on the protein (REVEL score 0.874) and it is located in a functional domain (PMID: 19473423, 18299331) PP3. The variant has been reported in the HGMD database: CM960551 and has been reported as Pathogenic by one other diagnostic laboratory (ClinVar Variation ID: 1677257). It has not been reported in dbSNP.

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