ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)

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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 RCV002596063 SCV003500495 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2022-03-13 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. 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"). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 448 of the SLC2A1 protein (p.Thr448Ala).
Revvity Omics, Revvity RCV003138532 SCV003825658 uncertain significance not provided 2023-01-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445206 SCV004172292 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445205 SCV004172293 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445203 SCV004172295 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445204 SCV004172296 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003445207 SCV004172297 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing

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