ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)

gnomAD frequency: 0.00001  dbSNP: rs201815571
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001266485 SCV001444660 uncertain significance Inborn genetic diseases 2017-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001322048 SCV001512900 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2022-02-20 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. Experimental studies have shown that this missense change does not substantially affect SLC2A1 function (PMID: 23280796). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 51 of the SLC2A1 protein (p.Arg51His). This variant is present in population databases (rs201815571, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of SLC2A1-related conditions (PMID: 31737037). ClinVar contains an entry for this variant (Variation ID: 985526). 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) performed at Invitae indicates that this missense variant is expected to disrupt SLC2A1 protein function.
Fulgent Genetics, Fulgent Genetics RCV002504382 SCV002816990 uncertain significance Hereditary cryohydrocytosis with reduced stomatin; Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 2021-07-20 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446670 SCV004173605 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446669 SCV004173606 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446667 SCV004173607 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446668 SCV004173608 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446671 SCV004173609 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory, Skane University Hospital Lund RCV004697096 SCV005198270 uncertain significance not provided 2022-08-12 criteria provided, single submitter clinical testing

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