Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000821412 | SCV000962167 | likely pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2019-03-04 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed to be de novo in an individual affected with SCN1A-related disease (Invitae). This variant is not present in population databases (ExAC no frequency). This variant, c.5288_5289delinsCCCATCTG, results in the deletion of 1 amino acid(s) and insertion of 3 of the SCN1A protein (p.Ile1763delinsThrHisLeu), but otherwise preserves the integrity of the reading frame. |