Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003764253 | SCV004523757 | pathogenic | Congenital factor V deficiency | 2023-10-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1621*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with F5-related conditions. For these reasons, this variant has been classified as Pathogenic. |
| Laboratory for Molecular Medicine, |
RCV003764253 | SCV004848733 | likely pathogenic | Congenital factor V deficiency | 2022-08-26 | criteria provided, single submitter | clinical testing | The p.Arg1621X variant in F5 has not been previously reported in individuals with Factor V deficiency and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 1621, which is predicted to lead to a truncated or absent protein. Loss of function of the F5 gene is an established disease mechanism in autosomal recessive Factor V deficiency. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Factor V deficiency. ACMG/AMP criteria applied: PVS1, PM2_Supporting. |