ClinVar Miner

Submissions for variant NM_000130.5(F5):c.5502C>T (p.Gly1834=)

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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 RCV003763582 SCV004509283 uncertain significance Congenital factor V deficiency 2024-01-12 criteria provided, single submitter clinical testing This sequence change affects codon 1834 of the F5 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the F5 protein. This variant is present in population databases (rs141434073, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with F5-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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