Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000002346 | SCV003443638 | pathogenic | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2023-08-17 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Arg90 amino acid residue in CYBA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10910929, 20167518). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2258). This variant is also known as G-297>A (Arg-90>Gln). This missense change has been observed in individual(s) with chronic granulomatous disease (PMID: 2243141, 29560547, 30470980). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs104894513, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 90 of the CYBA protein (p.Arg90Gln). |
| Fulgent Genetics, |
RCV000002346 | SCV005646327 | likely pathogenic | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2024-03-08 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000002346 | SCV000022504 | pathogenic | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 1992-11-01 | no assertion criteria provided | literature only |