ClinVar Miner

Submissions for variant NM_000132.4(F8):c.986G>A (p.Cys329Tyr)

dbSNP: rs137852409
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000010914 SCV002050002 likely pathogenic Hereditary factor VIII deficiency disease 2020-11-25 criteria provided, single submitter clinical testing The F8 c.986G>A; p.Cys329Tyr variant (rs137852409), also known as p.Cys310Tyr, is reported in the literature in individuals affected with severe hemophilia A (see link to FVIII database, Antonarakis 1995, Salviato 2007). This variant is also reported in ClinVar (Variation ID: 10201), and is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. Additionally, other amino acid substitutions at this codon (Ser, Phe, Arg) have been reported in individuals with moderate to severe hemophilia A (see link to FVIII database, Antonarakis 1995). The cysteine at codon 329 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.937). Based on available information, this variant is considered to be likely pathogenic. References: Link to FVIII database: https://f8-db.eahad.org Antonarakis SE et al. Molecular etiology of factor VIII deficiency in hemophilia A. Hum Mutat. 1995;5(1):1-22. Salviato R et al. F8 gene mutation profile and ITT response in a cohort of Italian haemophilia A patients with inhibitors. Haemophilia. 2007 Jul;13(4):361-72.
OMIM RCV000010914 SCV000031141 pathogenic Hereditary factor VIII deficiency disease 1995-01-01 no assertion criteria provided literature only

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.