ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)

dbSNP: rs1570590876
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819910 SCV000960597 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 408 of the SLC2A1 protein (p.Gly408Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SLC2A1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
MGZ Medical Genetics Center RCV002290466 SCV002581273 uncertain significance Encephalopathy due to GLUT1 deficiency 2022-02-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446453 SCV004172662 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446452 SCV004172663 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002290466 SCV004172664 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446451 SCV004172665 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446454 SCV004172666 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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