ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2862del (p.Ser955fs)

gnomAD frequency: 0.00004  dbSNP: rs765982916
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851763 SCV000899650 likely pathogenic Factor V deficiency 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003596549 SCV004293800 pathogenic Congenital factor V deficiency 2023-04-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser955Alafs*4) in the F5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in F5 are known to be pathogenic (PMID: 30924984). This variant is present in population databases (rs765982916, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with autosomal recessive factor V deficiency (PMID: 11781258, 30924984). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 2952delT. ClinVar contains an entry for this variant (Variation ID: 627051). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000851763 SCV000020836 pathogenic Factor V deficiency 2002-01-15 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.