ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2228C>A (p.Ser743Ter)

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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 RCV003597078 SCV004328416 pathogenic Congenital factor V deficiency 2023-09-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser743*) 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 (rs764010406, gnomAD 0.003%). 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.

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