Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001934013 | SCV002212612 | uncertain significance | Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative | 2021-09-24 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid with asparagine at codon 192 of the CYBA protein (p.Asp192Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with CYBA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 | RCV002562117 | SCV003636102 | uncertain significance | Inborn genetic diseases | 2022-08-16 | criteria provided, single submitter | clinical testing | The c.574G>A (p.D192N) alteration is located in exon 6 (coding exon 6) of the CYBA gene. This alteration results from a G to A substitution at nucleotide position 574, causing the aspartic acid (D) at amino acid position 192 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |