Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731093 | SCV000858868 | uncertain significance | not provided | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001265826 | SCV001443998 | uncertain significance | Inborn genetic diseases | 2019-04-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001855651 | SCV002147007 | uncertain significance | GLUT1 deficiency syndrome 1, autosomal recessive | 2021-08-21 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs764168088, ExAC 0.01%). This sequence change replaces valine with methionine at codon 391 of the SLC2A1 protein (p.Val391Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 595526). 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. |
Gene |
RCV000731093 | SCV002526237 | uncertain significance | not provided | 2022-12-20 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: Smeets_2017_Abstract) |
Genome- |
RCV003446412 | SCV004172676 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446411 | SCV004172677 | uncertain significance | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446409 | SCV004172678 | uncertain significance | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446410 | SCV004172679 | uncertain significance | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446413 | SCV004172680 | uncertain significance | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing |