ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)

gnomAD frequency: 0.00001  dbSNP: rs780529723
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001217353 SCV001389189 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2023-10-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 354 of the SLC2A1 protein (p.Ala354Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. ClinVar contains an entry for this variant (Variation ID: 441137). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (Invitae) indicates that this missense variant is not expected to disrupt SLC2A1 function with a negative predictive value of 80%. 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.
GeneDx RCV001764508 SCV001991593 uncertain significance not provided 2024-10-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Genome-Nilou Lab RCV003446107 SCV004172748 uncertain significance Epilepsy, idiopathic generalized, susceptibility to, 12 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446106 SCV004172749 uncertain significance Dystonia 9 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446104 SCV004172750 uncertain significance Encephalopathy due to GLUT1 deficiency 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446105 SCV004172751 uncertain significance Childhood onset GLUT1 deficiency syndrome 2 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003446108 SCV004172752 uncertain significance Hereditary cryohydrocytosis with reduced stomatin 2023-04-11 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000509454 SCV000607304 not provided Dystonia 9; Encephalopathy due to GLUT1 deficiency; Childhood onset GLUT1 deficiency syndrome 2; Epilepsy, idiopathic generalized, susceptibility to, 12 no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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