Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001235859 | SCV001408565 | uncertain significance | Epileptic encephalopathy | 2019-07-30 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs202160360, ExAC 0.06%). This sequence change replaces alanine with threonine at codon 1579 of the RYR3 protein (p.Ala1579Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant has not been reported in the literature in individuals with RYR3-related conditions. 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 | RCV002563840 | SCV003702187 | uncertain significance | Inborn genetic diseases | 2021-08-30 | criteria provided, single submitter | clinical testing | The c.4735G>A (p.A1579T) alteration is located in exon 35 (coding exon 35) of the RYR3 gene. This alteration results from a G to A substitution at nucleotide position 4735, causing the alanine (A) at amino acid position 1579 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |