Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001908714 | SCV002176139 | uncertain significance | GLUT1 deficiency syndrome 1, autosomal recessive | 2023-03-13 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1402777). This missense change has been observed in individual(s) with autosomal dominant GLUT1-deficiency syndrome (PMID: 22011817). This variant is present in population databases (rs769722007, gnomAD 0.0009%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 41 of the SLC2A1 protein (p.Glu41Lys). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC2A1 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. |
Prevention |
RCV004552094 | SCV004109253 | uncertain significance | SLC2A1-related disorder | 2022-12-15 | criteria provided, single submitter | clinical testing | The SLC2A1 c.121G>A variant is predicted to result in the amino acid substitution p.Glu41Lys. This variant has been reported in a single individual with glucose transporter type 1 deficiency syndrome (Hashimoto et al 2011. PubMed ID: 22011817). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Genome- |
RCV003446945 | SCV004173944 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446944 | SCV004173945 | uncertain significance | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446942 | SCV004173946 | uncertain significance | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446943 | SCV004173947 | uncertain significance | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003446946 | SCV004173948 | uncertain significance | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing |