Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000034885 | SCV003525464 | uncertain significance | Deficiency of ferroxidase | 2022-04-29 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 28 of the CP protein (p.Ile28Phe). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hypoceruloplasminemia (PMID: 10997552). This variant is also known as I9F. ClinVar contains an entry for this variant (Variation ID: 42057). 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 CP protein function. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on CP function (PMID: 16775387, 19095659). 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. |
Gene |
RCV000034885 | SCV000058491 | pathologic | Deficiency of ferroxidase | 2013-04-18 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |