Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000654327 | SCV000776217 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2022-09-01 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 543534). This missense change has been observed in at least one individual who was not affected with CHRNA2-related conditions (Invitae). This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 506 of the CHRNA2 protein (p.Trp506Arg). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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"). |
| Fulgent Genetics, |
RCV000764774 | SCV000895912 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy 4 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003243242 | SCV003951231 | uncertain significance | Inborn genetic diseases | 2023-05-23 | criteria provided, single submitter | clinical testing | The c.1516T>A (p.W506R) alteration is located in exon 7 (coding exon 6) of the CHRNA2 gene. This alteration results from a T to A substitution at nucleotide position 1516, causing the tryptophan (W) at amino acid position 506 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |