Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Revvity Omics, |
RCV003130965 | SCV003816264 | uncertain significance | Developmental and epileptic encephalopathy, 78 | 2023-02-01 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003162194 | SCV003885979 | uncertain significance | Inborn genetic diseases | 2023-01-06 | criteria provided, single submitter | clinical testing | The c.1174A>G (p.T392A) alteration is located in exon 9 (coding exon 9) of the GABRA2 gene. This alteration results from a A to G substitution at nucleotide position 1174, causing the threonine (T) at amino acid position 392 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV003661010 | SCV004379372 | uncertain significance | not provided | 2023-07-14 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 452 of the GABRA2 protein (p.Thr452Ala). This variant is present in population databases (no rsID available, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with GABRA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2432000). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |