Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001927669 | SCV002172339 | uncertain significance | Deficiency of ferroxidase | 2024-10-26 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 516 of the CP protein (p.Thr516Ala). This variant is present in population databases (rs780668014, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CP-related conditions. ClinVar contains an entry for this variant (Variation ID: 1404214). 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 CP 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. |
| Ambry Genetics | RCV002555353 | SCV003618027 | uncertain significance | Inborn genetic diseases | 2022-05-30 | criteria provided, single submitter | clinical testing | The c.1546A>G (p.T516A) alteration is located in exon 9 (coding exon 9) of the CP gene. This alteration results from a A to G substitution at nucleotide position 1546, causing the threonine (T) at amino acid position 516 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |