Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001219524 | SCV001391468 | uncertain significance | Autosomal dominant nocturnal frontal lobe epilepsy | 2022-03-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with CHRNA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 256 of the CHRNA2 protein (p.Thr256Ile). ClinVar contains an entry for this variant (Variation ID: 948299). 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 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"). |
| Ambry Genetics | RCV002562478 | SCV003629979 | uncertain significance | Inborn genetic diseases | 2022-09-07 | criteria provided, single submitter | clinical testing | The c.767C>T (p.T256I) alteration is located in exon 6 (coding exon 5) of the CHRNA2 gene. This alteration results from a C to T substitution at nucleotide position 767, causing the threonine (T) at amino acid position 256 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |