ClinVar Miner

Submissions for variant NM_006516.4(SLC2A1):c.18G>A (p.Lys6=)

gnomAD frequency: 0.00012  dbSNP: rs577329624
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423309 SCV000514674 likely benign not specified 2016-03-23 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 RCV000648073 SCV000769883 uncertain significance GLUT1 deficiency syndrome 1, autosomal recessive 2024-01-22 criteria provided, single submitter clinical testing This sequence change affects codon 6 of the SLC2A1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SLC2A1 protein. This variant also falls at the last nucleotide of exon 1, which is part of the consensus splice site for this exon. This variant is present in population databases (rs577329624, gnomAD 0.03%). 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: 378602). 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.

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