ClinVar Miner

Submissions for variant NM_000130.5(F5):c.5621T>C (p.Met1874Thr)

gnomAD frequency: 0.00003  dbSNP: rs377129476
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
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851824 SCV000899808 uncertain significance Abnormal bleeding 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003596550 SCV004274017 uncertain significance Congenital factor V deficiency 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1874 of the F5 protein (p.Met1874Thr). This variant is present in population databases (rs377129476, gnomAD 0.02%). This missense change has been observed in individual(s) with unexplained bleeding (PMID: 31064749). ClinVar contains an entry for this variant (Variation ID: 627095). 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 not expected to disrupt F5 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.