Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038103 | SCV001201551 | uncertain significance | Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 | 2024-01-05 | criteria provided, single submitter | clinical testing | This variant, c.1396_1401dup, results in the insertion of 2 amino acid(s) of the SCN2A protein (p.Ala466_Ala467dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs754615123, 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: 836884). 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. |
Revvity Omics, |
RCV003141948 | SCV003820778 | uncertain significance | not provided | 2022-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV003141948 | SCV004170139 | uncertain significance | not provided | 2023-04-06 | criteria provided, single submitter | clinical testing | In-frame insertion of 2 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the cytoplasmic loop between the first and second homologous domains |