Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001041277 | SCV001204880 | uncertain significance | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2023-11-18 | criteria provided, single submitter | clinical testing | This variant, c.5836_5838del, results in the deletion of 1 amino acid(s) of the SCN2A protein (p.Lys1946del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs770838929, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with SCN2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 839505). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Gene |
RCV001776099 | SCV002012678 | uncertain significance | not provided | 2022-11-17 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This residue is predicted to be within the C-terminal cytoplasmic domain |