Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189528 | SCV000243171 | likely benign | not specified | 2017-06-29 | 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. |
Invitae | RCV000549789 | SCV000633795 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317651 | SCV000851426 | uncertain significance | Inborn genetic diseases | 2016-12-30 | criteria provided, single submitter | clinical testing | The p.K2163R variant (also known as c.6488A>G), located in coding exon 48 of the SPTAN1 gene, results from an A to G substitution at nucleotide position 6488. The lysine at codon 2163 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. |
Institute of Human Genetics, |
RCV001262535 | SCV001440452 | benign | Developmental and epileptic encephalopathy, 5 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001262535 | SCV002056584 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003221842 | SCV003917711 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | SPTAN1: PP2, BS2 |