Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117178 | SCV000151342 | likely benign | not specified | 2013-05-14 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711852 | SCV000842258 | uncertain significance | not provided | 2017-09-18 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002313887 | SCV000847626 | uncertain significance | Inborn genetic diseases | 2017-10-27 | criteria provided, single submitter | clinical testing | The p.F183I variant (also known as c.547T>A), located in coding exon 2 of the GRIN2A gene, results from a T to A substitution at nucleotide position 547. The phenylalanine at codon 183 is replaced by isoleucine, an amino acid with highly similar properties. In one study, this variant was detected in an individual with benign epilepsy with centrotemporal spikes (rolandic epilepsy). The variant was not present in the patient's asymptomatic father (mother's variant status unknown) (Lemke JR et al. Nat. Genet., 2013 Sep;45:1067-72). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear. |
Invitae | RCV000989528 | SCV001011206 | likely benign | Landau-Kleffner syndrome | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989528 | SCV001139948 | benign | Landau-Kleffner syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711852 | SCV001815411 | likely benign | not provided | 2023-04-28 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Revvity Omics, |
RCV000989528 | SCV003815185 | uncertain significance | Landau-Kleffner syndrome | 2020-12-10 | criteria provided, single submitter | clinical testing | |
Institute for Clinical Genetics, |
RCV000711852 | SCV004026266 | uncertain significance | not provided | 2023-05-10 | criteria provided, single submitter | clinical testing | PP3, PP4, PM2_SUP |
Ce |
RCV000711852 | SCV004141111 | uncertain significance | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | |
Bioinformatics Core, |
RCV000656052 | SCV000588328 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |