ClinVar Miner

Submissions for variant NM_000130.5(F5):c.5453del (p.Leu1818fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003763436 SCV004467895 pathogenic Congenital factor V deficiency 2023-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu1818Argfs*9) 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 (rs750012108, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with F5-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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