Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001373837 | SCV001570569 | uncertain significance | Dystonia 12 | 2024-11-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 16 of the ATP1A3 protein (p.Gly16Ser). This variant is present in population databases (rs559227917, gnomAD 0.003%). This missense change has been observed in individual(s) with alternating hemiplegia of childhood (PMID: 34459253). ClinVar contains an entry for this variant (Variation ID: 1063941). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ATP1A3 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. |
| Ambry Genetics | RCV002550180 | SCV003549004 | uncertain significance | Inborn genetic diseases | 2021-03-30 | criteria provided, single submitter | clinical testing | The c.46G>A (p.G16S) alteration is located in exon 2 (coding exon 2) of the ATP1A3 gene. This alteration results from a G to A substitution at nucleotide position 46, causing the glycine (G) at amino acid position 16 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |