Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000259821 | SCV000341358 | uncertain significance | not provided | 2016-06-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001067625 | SCV001232694 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2021-10-27 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, a(n) neutral and polar amino acid, with cysteine, a(n) neutral and slightly polar amino acid, at codon 889 of the SPTAN1 protein (p.Ser889Cys). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 287557). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Genome- |
RCV001808739 | SCV002056750 | uncertain significance | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing |