ClinVar

Description

This variant, c.967_972del, results in the deletion of 2 amino acid(s) of the SLC2A1 protein (p.Val323_Ser324del), but otherwise preserves the integrity of the reading frame. This variant also falls at the last nucleotide of exon 7, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC2A1-related conditions. This variant is also known as c.970_972+3del. ClinVar contains an entry for this variant (Variation ID: 971358). 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 may disrupt the consensus splice site. This variant disrupts a region of the SLC2A1 protein in which other variant(s) (p.Ser324Leu) have been determined to be pathogenic (PMID: 19798636, 20574033, 25099510). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.