ClinVar Miner

Submissions for variant NM_000130.5(F5):c.5645G>A (p.Trp1882Ter)

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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 RCV003814205 SCV004613574 pathogenic Congenital factor V deficiency 2023-08-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp1882*) 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 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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