ClinVar Miner

Submissions for variant NM_000130.5(F5):c.4465C>T (p.Gln1489Ter)

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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 RCV003596939 SCV004306549 pathogenic Congenital factor V deficiency 2023-07-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1489*) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with F5-related conditions. This variant is not present in population databases (gnomAD no frequency).

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