Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000797536 | SCV000937097 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2018-08-20 | 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. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SPTAN1-related disease. This variant is present in population databases (rs779633188, ExAC 0.001%). This sequence change replaces arginine with histidine at codon 839 of the SPTAN1 protein (p.Arg839His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. |
| Ambry Genetics | RCV002534621 | SCV003701472 | uncertain significance | Inborn genetic diseases | 2021-09-01 | criteria provided, single submitter | clinical testing | The c.2516G>A (p.R839H) alteration is located in exon 18 (coding exon 17) of the SPTAN1 gene. This alteration results from a G to A substitution at nucleotide position 2516, causing the arginine (R) at amino acid position 839 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |