ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5666A>G (p.Gln1889Arg)

dbSNP: rs2123997081
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Departamento de Patología, Instituto de Genética, Universidad Nacional de Colombia RCV001528189 SCV001739515 likely pathogenic Hereditary factor VIII deficiency disease criteria provided, single submitter clinical testing ACMG Guidelines. PM1: UniProt protein FA8_HUMAN domain 'Plastocyanin-like 6' has 55 non-VUS missense/in-frame/non-synonymous, variants (55 pathogenic and 0 benign), pathogenicity = 100.0% which is more than threshold 50.0%. PM2: Variant not found in gnomAD exomes (good gnomAD exomes coverage = 83.8). Variant not found in gnomAD genomes (good gnomAD genomes coverage = 22.0). PP2: 720 out of 744 non-VUS. PP3: missense variants in gene F8 are pathogenic = 96.8% which is more than threshold of 51.0%, and 856 out of 996 clinically reported variants in gene F8 are pathogenic = 85.9% which is more than threshold of 12.0%. PP3: Pathogenic computational verdict based on 7 pathogenic predictions from DANN, DEOGEN2, FATHMM-MKL, M-CAP, MVP, MutationAssessor and MutationTaster vs 4 benign predictions from BayesDel_addAF, LIST-S2, PrimateAI and SIFT.

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.