Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000209885 | SCV000265507 | uncertain significance | Severe myoclonic epilepsy in infancy | 2021-09-01 | criteria provided, single submitter | research | |
Gene |
RCV000494091 | SCV000582178 | likely pathogenic | not provided | 2015-09-25 | criteria provided, single submitter | clinical testing | The S1516L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S1516L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution alters a highly conserved position predicted to be in the cytoplasmic loop between the third and fourth homologous domains. In silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, variants in nearby residues (A1510G, M1511R, L1514S, P1519T) have been reported in the Human Gene Mutation Database in association with SCN1A-related disorders (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Invitae | RCV000702992 | SCV000831870 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2021-10-13 | criteria provided, single submitter | clinical testing |