ClinVar Miner

Submissions for variant NM_000506.5(F2):c.13C>T (p.Arg5Ter)

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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 RCV003627748 SCV004401455 pathogenic Congenital prothrombin deficiency 2023-06-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with F2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg5*) in the F2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in F2 are known to be pathogenic (PMID: 23852823).

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