ClinVar Miner

Submissions for variant NM_006516.3(SLC2A1):c.138G>C (p.Gln46His) (rs149998596)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189349 SCV000242984 uncertain significance not specified 2015-02-20 criteria provided, single submitter clinical testing p.Gln46His (CAG>CAC): c.138 G>C in exon 3 of the SLC2A1 gene (NM_006516.2)The Gln46His missense change has been previously reported in a single individual with hereditary spastic paralegia (Weber et al., 2011). Functional analysis of the variant did not demonstrate any significant differences in the GLUT1 transporter function as compared to wildtype (Weber et al., 2011). This variant is a non-conservative amino acid substitution of an uncharged Glutamine residue with a positively charged Histidine residue at a position that is not conserved across species. In silico analysis predicts this variant is likely benign. Therefore, the currently available information suggests that Gln46His is likely a rare benign variant, but the possibility that it is disease-causing cannot be completely excluded at present. The variant is found in EPILEPSY panel(s).
Invitae RCV000865433 SCV001006394 benign GLUT1 deficiency syndrome 1, autosomal recessive 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001096621 SCV001252844 benign GLUT1 deficiency syndrome 1 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001096622 SCV001252845 benign Dystonia 9 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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