Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000010989 | SCV005185901 | pathogenic | Hereditary factor VIII deficiency disease | 2024-05-03 | criteria provided, single submitter | clinical testing | Variant summary: F8 c.5398C>G (p.Arg1800Gly) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 181798 control chromosomes. c.5398C>G has been reported in the literature in at-least four individuals affected with Factor VIII Deficiency (Hemophilia A) (example, Eckhardt_2013). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Additionally, at least one variant at the Arg1800 residue has been reported as associated with disease (p.Arg1800His, PATH/ClinVar), suggesting that this codon is functionally important. The following publication have been ascertained in the context of this evaluation (PMID: 23926300). ClinVar contains an entry for this variant (Variation ID: 10276). Based on the evidence outlined above, the variant was classified as pathogenic. |
| OMIM | RCV000010989 | SCV000031216 | pathogenic | Hereditary factor VIII deficiency disease | 1995-01-01 | no assertion criteria provided | literature only |