ClinVar Miner

Submissions for variant NM_000130.5(F5):c.911G>A (p.Gly304Glu)

gnomAD frequency: 0.00002  dbSNP: rs865947251
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852244 SCV000899983 likely pathogenic Factor V deficiency 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV000852244 SCV002569293 likely pathogenic Factor V deficiency criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003596552 SCV004293807 likely pathogenic Congenital factor V deficiency 2023-07-28 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt F5 protein function. ClinVar contains an entry for this variant (Variation ID: 627404). This variant is also known as p.Gly276Glu. This missense change has been observed in individual(s) with autosomal recessive factor V deficiency (PMID: 19486170, 31064749, 32833806, 34280927, 37150682). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 304 of the F5 protein (p.Gly304Glu).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000852245 SCV000899984 uncertain significance Thromboembolism 2019-02-01 flagged submission research

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.