Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001916560 | SCV002186153 | uncertain significance | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 83 of the CFI protein (p.Pro83Arg). This variant has not been reported in the literature in individuals affected with CFI-related conditions. 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. 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 CFI protein function. ClinVar contains an entry for this variant (Variation ID: 1410791). |
| Mayo Clinic Laboratories, |
RCV001916560 | SCV002542096 | uncertain significance | not provided | 2022-01-27 | criteria provided, single submitter | clinical testing | |
| 3billion | RCV002283566 | SCV002572996 | uncertain significance | Factor I deficiency | 2022-09-01 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.003%). A different missense change at the same codon (p.Pro83Gln) has been reported to be associated with CFI-related disorder (PMID: 26826462). However the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline. |