Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV002249952 | SCV002519654 | pathogenic | Thrombophilia, X-linked, due to factor 8 defect | 2022-05-04 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV004690273 | SCV005184941 | uncertain significance | not specified | 2024-05-10 | criteria provided, single submitter | clinical testing | Variant summary: F8 c.5976G>A (p.Met1992Ile) results in a conservative amino acid change located in the Multicopper oxidase, C-terminal (IPR011706) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 183131 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.5976G>A has been reported in the literature in at least one individual affected with sporadic mild Hemophilia A without reported sex/genotype (e.g. Riccardi_2010, Tagliaferri_2012). These reports do not provide unequivocal conclusions about association of the variant with Factor VIII Deficiency (Hemophilia A). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 20331761, 21771207). ClinVar contains an entry for this variant (Variation ID: 1685785). Based on the evidence outlined above, the variant was classified as uncertain significance. |
| Mayo Clinic Laboratories, |
RCV004793752 | SCV005411525 | uncertain significance | not provided | 2024-04-29 | criteria provided, single submitter | clinical testing | PP3, PM1_supporting, PM2_moderate |