Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189399 | SCV000243037 | uncertain significance | not provided | 2017-07-04 | criteria provided, single submitter | clinical testing | p.Cys429Ser (TGT>TCT): c.1286 G>C in exon 10 of the SLC2A1 gene (NM_006516.2) A variant of unknown significance has been identified in the SLC2A1 gene. The C429S variant has not been published as a mutation, nor has it been reported as a benign polymorphism 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 C429S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. Additionally, this substitution alters a conserved position predicted to be within the extracellular loop between the eleventh and twelfth transmembrane domains in the Glut-1 protein. However, other missense mutations in nearby residues have not been reported in association with SLC2A1-related disorders, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s). |
Labcorp Genetics |
RCV001208558 | SCV001379952 | uncertain significance | GLUT1 deficiency syndrome 1, autosomal recessive | 2023-06-03 | criteria provided, single submitter | clinical testing | 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. Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt SLC2A1 function. ClinVar contains an entry for this variant (Variation ID: 207231). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 429 of the SLC2A1 protein (p.Cys429Ser). |
Genome- |
RCV003445682 | SCV004172311 | uncertain significance | Epilepsy, idiopathic generalized, susceptibility to, 12 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445681 | SCV004172312 | uncertain significance | Dystonia 9 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445679 | SCV004172313 | uncertain significance | Encephalopathy due to GLUT1 deficiency | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445680 | SCV004172314 | uncertain significance | Childhood onset GLUT1 deficiency syndrome 2 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003445683 | SCV004172315 | uncertain significance | Hereditary cryohydrocytosis with reduced stomatin | 2023-04-11 | criteria provided, single submitter | clinical testing |