Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189487 | SCV000243130 | likely benign | not specified | 2015-03-09 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Ce |
RCV000487757 | SCV000575595 | uncertain significance | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808506 | SCV002056524 | likely benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002362990 | SCV002658572 | uncertain significance | Inborn genetic diseases | 2018-04-24 | criteria provided, single submitter | clinical testing | The p.K214R variant (also known as c.641A>G), located in coding exon 4 of the SPTAN1 gene, results from an A to G substitution at nucleotide position 641. The lysine at codon 214 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
Invitae | RCV002514066 | SCV003492419 | uncertain significance | Early infantile epileptic encephalopathy with suppression bursts | 2022-07-14 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 207314). This variant has not been reported in the literature in individuals affected with SPTAN1-related conditions. This variant is present in population databases (rs760419507, gnomAD 0.003%). This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 214 of the SPTAN1 protein (p.Lys214Arg). |