ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.877T>C (p.Tyr293His)

dbSNP: rs2124448410
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768376 SCV002008979 uncertain significance not provided 2021-05-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001868746 SCV002195268 pathogenic GLUT1 deficiency syndrome 1, autosomal recessive 2021-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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. This variant has been observed in individual(s) with clinical features of SLC2A1-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with histidine at codon 293 of the SLC2A1 protein (p.Tyr293His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine.

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