Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002265114 | SCV002546665 | uncertain significance | not provided | 2022-01-10 | criteria provided, single submitter | clinical testing | In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV003095985 | SCV003513063 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2022-07-02 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 2 of the SCN1A gene. It does not directly change the encoded amino acid sequence of the SCN1A protein. This variant is present in population databases (rs371926865, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |