Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189360 | SCV000242997 | pathogenic | not provided | 2021-12-01 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 10980529, 25525159, 26216499, 26193382, 20129935, 29655203, 32371413, 34676189, 32712428) |
Labcorp Genetics |
RCV000461498 | SCV000545826 | pathogenic | GLUT1 deficiency syndrome 1, autosomal recessive | 2022-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 207196). This premature translational stop signal has been observed in individual(s) with Glut-1 Deficiency Syndrome (PMID: 10980529, 20129935, 26216499). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg330*) 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). |
Ambry Genetics | RCV000622452 | SCV000741549 | pathogenic | Inborn genetic diseases | 2016-06-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000679880 | SCV000807266 | pathogenic | Encephalopathy due to GLUT1 deficiency | 2017-09-01 | criteria provided, single submitter | clinical testing | This variant has been previously reported as disease-causing and was found once in our laboratory in a 13-year-old female with intellectual disability with regression, microcephaly, cryptogenic generalized epilepsy, static encephalopathy |
Génétique des Maladies du Développement, |
RCV001004692 | SCV001164153 | pathogenic | Childhood onset GLUT1 deficiency syndrome 2 | 2017-07-11 | criteria provided, single submitter | clinical testing | |
Institute for Genomic Medicine |
RCV001249688 | SCV001423684 | pathogenic | Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2 | 2017-12-15 | criteria provided, single submitter | clinical testing | [ACMG/AMP: PVS1, PS2, PM2, PP3, PP5] This alteration is a null variant in a gene where LOF is a known mechanism of disease [PVS1], is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], is predicted to be damaging by multiple functional prediction tools [PP3], was reported as a pathogenic/likely pathogenic alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory) [PP5]. |
Ce |
RCV000189360 | SCV001500364 | pathogenic | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000189360 | SCV002020696 | pathogenic | not provided | 2019-09-04 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000679880 | SCV004172800 | pathogenic | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics, |
RCV000415466 | SCV000493100 | likely pathogenic | Epilepsy; Microcephaly; intellectual deficiency | no assertion criteria provided | clinical testing | ||
Genome |
RCV000679880 | SCV003804779 | not provided | Encephalopathy due to GLUT1 deficiency | no assertion provided | phenotyping only | Variant interpreted as Pathogenic and reported on 07-25-2022 by Invitae . Assertions are reported exactly as they appear on the patient provided laboratory report. GenomeConnect does not attempt to reinterpret the variant. The IDDRC-CTSA National Brain Gene Registry (BGR) is a study funded by the U.S. National Center for Advancing Translational Sciences (NCATS) and includes 13 Intellectual and Developmental Disability Research Center (IDDRC) institutions. The study is led by Principal Investigator Philip Payne PhD, FACMI from Washington University. The BGR is a data commons of gene variants paired with subject clinical information. This database helps scientists learn more about genetic changes and their impact on the brain and behavior. Participation in the Brain Gene Registry requires participation in GenomeConnect. More information about the Brain Gene Registry can be found on the study website - https://braingeneregistry.wustl.edu/. |