ClinVar Miner

Submissions for variant NM_000130.5(F5):c.1498T>G (p.Cys500Gly)

dbSNP: rs1571581722
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851702 SCV000899518 likely pathogenic Factor V deficiency 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003596548 SCV004293805 uncertain significance Congenital factor V deficiency 2023-11-17 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 500 of the F5 protein (p.Cys500Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of factor V deficiency (PMID: 12816860, 31064749). This variant is also known as p.Cys472Gly. ClinVar contains an entry for this variant (Variation ID: 627004). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt F5 protein function with a positive predictive value of 80%. Experimental studies have shown that this missense change affects F5 function (PMID: 12816860). 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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