Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000475266 | SCV000553150 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 1958 of the SPTAN1 protein (p.Gly1958Cys). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 411798). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The cysteine 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. |
Center for Genomics, |
RCV002056713 | SCV002495974 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2022-02-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature but is present in 0.02% (9/41396) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/9 128624367 G T?dataset=gnomad_r3). This variant is present in ClinVar (Variation ID:411798). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain. |
Ambry Genetics | RCV003343841 | SCV004068302 | uncertain significance | Inborn genetic diseases | 2023-08-09 | criteria provided, single submitter | clinical testing | The c.5872G>T (p.G1958C) alteration is located in exon 46 (coding exon 45) of the SPTAN1 gene. This alteration results from a G to T substitution at nucleotide position 5872, causing the glycine (G) at amino acid position 1958 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |