ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1452G>C (p.Lys484Asn)

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
Ambry Genetics RCV002989380 SCV003701464 uncertain significance Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing The c.1452G>C (p.K484N) alteration is located in exon 10 (coding exon 10) of the F5 gene. This alteration results from a G to C substitution at nucleotide position 1452, causing the lysine (K) at amino acid position 484 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV005098982 SCV005727577 uncertain significance Congenital factor V deficiency 2024-12-29 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 484 of the F5 protein (p.Lys484Asn). This variant is present in population databases (rs139213790, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with F5-related conditions. ClinVar contains an entry for this variant (Variation ID: 2357893). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt F5 protein function with a positive predictive value of 80%. 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.