Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000429681 | SCV000525315 | likely pathogenic | not provided | 2016-03-18 | criteria provided, single submitter | clinical testing | A novel Q200X variant that is likely pathogenic has been identified in the SLC2A1 gene. The Q200X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The Q200X nonsense variant in the SLC2A1 gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
| Labcorp Genetics |
RCV001865350 | SCV002234620 | pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive | 2022-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 384478). This premature translational stop signal has been observed in individual(s) with clinical features of SLC2A1-related conditions (PMID: 28135719). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln200*) in the SLC2A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC2A1 are known to be pathogenic (PMID: 21832227, 26193382). |
| Genome- |
RCV003446013 | SCV004173391 | likely pathogenic | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing |