ClinVar Miner

Submissions for variant NM_000506.5(F2):c.1745G>A (p.Trp582Ter)

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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 RCV003626587 SCV004510397 likely pathogenic Congenital prothrombin deficiency 2023-08-19 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the F2 protein. Other variant(s) that disrupt this region (p.Q584*, p.His605Argfs*13, p.W612*) have been observed in individuals with F2-related conditions (PMID: 8839854, 9890721, 33977210). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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.Trp582*) in the F2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 41 amino acid(s) of the F2 protein.

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