ClinVar Miner

Submissions for variant NM_000506.5(F2):c.392dup (p.Trp132fs)

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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 RCV003626567 SCV004508142 pathogenic Congenital prothrombin deficiency 2023-05-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp132Metfs*8) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with F2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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