ClinVar Miner

Submissions for variant NM_000130.5(F5):c.2009C>G (p.Pro670Arg)

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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 RCV005192475 SCV005819188 uncertain significance Congenital factor V deficiency 2024-10-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 670 of the F5 protein (p.Pro670Arg). This variant is present in population databases (rs141277663, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with F5-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt F5 protein function with a negative predictive value of 80%. 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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