ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)

dbSNP: rs1027810691
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001751833 SCV001986484 uncertain significance not provided 2019-02-15 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002539910 SCV003256903 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2022-10-13 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 of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SLC2A1 protein function. ClinVar contains an entry for this variant (Variation ID: 1304066). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 398 of the SLC2A1 protein (p.Gly398Ser).
Genome-Nilou Lab RCV003389073 SCV004172671 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446887 SCV004172672 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446885 SCV004172673 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446886 SCV004172674 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446888 SCV004172675 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center RCV003389073 SCV005374370 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2024-09-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001751833 SCV005411830 uncertain significance not provided 2024-03-21 criteria provided, single submitter clinical testing PM2_moderate
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas RCV003389073 SCV004101074 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-11-02 no assertion criteria provided clinical testing

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