ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1438G>A (p.Glu480Lys)

gnomAD frequency: 0.00002  dbSNP: rs756304012
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000840858 SCV000982799 likely benign not provided 2018-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001373403 SCV001570117 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2023-07-17 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. 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) performed at Invitae indicates that this missense variant is not expected to disrupt SLC2A1 protein function. ClinVar contains an entry for this variant (Variation ID: 681030). This variant is present in population databases (rs756304012, gnomAD 0.006%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 480 of the SLC2A1 protein (p.Glu480Lys).

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