Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003756397 | SCV004533258 | uncertain significance | Epileptic encephalopathy | 2023-06-24 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GABBR2 protein function. This variant has not been reported in the literature in individuals affected with GABBR2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 708 of the GABBR2 protein (p.Ala708Ser). |
Ambry Genetics | RCV005335889 | SCV006001465 | uncertain significance | Inborn genetic diseases | 2025-02-22 | criteria provided, single submitter | clinical testing | The c.2122G>T (p.A708S) alteration is located in exon 15 (coding exon 15) of the GABBR2 gene. This alteration results from a G to T substitution at nucleotide position 2122, causing the alanine (A) at amino acid position 708 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |