Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV005051257 | SCV005683781 | uncertain significance | Hereditary angioedema type 1; C1 inhibitor deficiency | 2024-03-20 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV003108428 | SCV003780587 | uncertain significance | not provided | 2022-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 52 of the SERPING1 protein (p.Lys52Arg). This variant is present in population databases (rs766862937, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SERPING1-related conditions. 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 not expected to disrupt SERPING1 protein function. 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. |