Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002029151 | SCV002297461 | likely pathogenic | Granulomatous disease, chronic, X-linked | 2021-07-22 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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 CYBB protein function. This variant has been observed in individual(s) with chronic granulomatous disease (PMID: 18762975, 20729109). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 257 of the CYBB protein (p.Cys257Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. |