Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001751833 | SCV001986484 | uncertain significance | not provided | 2019-02-15 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV002539910 | SCV003256903 | uncertain significance | GLUT1 deficiency syndrome 1, autosomal recessive | 2022-10-13 | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC2A1 protein function. ClinVar contains an entry for this variant (Variation ID: 1304066). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 398 of the SLC2A1 protein (p.Gly398Ser). |
Genome- |
RCV003389073 | SCV004172671 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446887 | SCV004172672 | uncertain significance | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446885 | SCV004172673 | uncertain significance | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446886 | SCV004172674 | uncertain significance | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446888 | SCV004172675 | uncertain significance | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV003389073 | SCV005374370 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2024-09-22 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV001751833 | SCV005411830 | uncertain significance | not provided | 2024-03-21 | criteria provided, single submitter | clinical testing | PM2_moderate |
Zotz- |
RCV003389073 | SCV004101074 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-11-02 | no assertion criteria provided | clinical testing |