Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001540134 | SCV001757982 | uncertain significance | not provided | 2020-10-26 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV001882607 | SCV002239581 | uncertain significance | GLUT1 deficiency syndrome 1, autosomal recessive | 2021-06-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SLC2A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 196 of the SLC2A1 protein (p.Pro196Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. 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) performed at Invitae indicates that this missense variant is expected to disrupt SLC2A1 protein function. 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. |
Genome- |
RCV003446819 | SCV004173403 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446818 | SCV004173404 | uncertain significance | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446816 | SCV004173405 | uncertain significance | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446817 | SCV004173406 | uncertain significance | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446820 | SCV004173407 | uncertain significance | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing |