Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001228328 | SCV001400723 | pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2022-11-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 955648). This variant is also known as c.3173delAAGA / K1058fs1079X. This premature translational stop signal has been observed in individual(s) with severe myoclonic epilepsy of infancy (SMEI) or Dravet syndrome (PMID: 17054684). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1058Thrfs*21) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). |
| Neuberg Supratech Reference Laboratories Pvt Ltd, |
RCV002510589 | SCV002820328 | pathogenic | Severe myoclonic epilepsy in infancy | criteria provided, single submitter | clinical testing | The frameshift deletion p.K1058Tfs*21 in SCN1A (NM_001165963.4) has been reported in affected indvidual (Mancardi MM et al). It has been reported in literature as c.3173delAAGA / K1058fs1079X. It has been submitted to ClinVar as Pathogenic. The p.K1058Tfs*21 variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. For these reasons, this variant has been classified as Pathogenic. |