Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002335175 | SCV002638248 | uncertain significance | Inborn genetic diseases | 2024-01-16 | criteria provided, single submitter | clinical testing | The c.4676A>G (p.N1559S) alteration is located in exon 13 (coding exon 13) of the F5 gene. This alteration results from a A to G substitution at nucleotide position 4676, causing the asparagine (N) at amino acid position 1559 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV005096626 | SCV005738950 | uncertain significance | Congenital factor V deficiency | 2024-12-24 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1559 of the F5 protein (p.Asn1559Ser). This variant is present in population databases (rs201931929, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with F5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1742353). 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 95%. 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. |