Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626917 | SCV000747620 | likely pathogenic | Global developmental delay; Choreoathetosis; Leukoencephalopathy; Febrile seizure (within the age range of 3 months to 6 years) | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000701379 | SCV000830179 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2018-02-26 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with serine at codon 1412 of the SCN8A protein (p.Phe1412Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN8A-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. |
Baylor Genetics | RCV001330491 | SCV001522179 | uncertain significance | Developmental and epileptic encephalopathy, 13 | 2019-01-20 | criteria provided, single submitter | clinical testing | This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868]. |