ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.679+4C>A

dbSNP: rs139492241
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147527 SCV000194971 uncertain significance Encephalopathy due to GLUT1 deficiency 2012-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000189343 SCV000242978 benign not specified 2014-08-28 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 RCV000648079 SCV000769889 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-27 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the SLC2A1 gene. It does not directly change the encoded amino acid sequence of the SLC2A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs139492241, gnomAD 0.07%). 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: 159925). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
PreventionGenetics, part of Exact Sciences RCV004551281 SCV004785792 likely benign SLC2A1-related disorder 2021-05-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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