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This sequence alter has an effect on codon 777 on the GAA mRNA. It's a 'silent' change, indicating that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been described within the literature in persons affected with GAA-linked circumstances.

Aberrant five' splice web-sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.

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Stars depict the mixture assessment position, or the level of evaluate supporting the mixture germline classification for this VCV record.

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The submitting Business for this submitted (SCV) report. This column also features the SCV accession and Model variety, the date this SCV initial appeared in ClinVar, along with the date this SCV was previous updated in ClinVar.

03%). This variant hasn't been documented inside the literature in people afflicted with GAA-linked ailments. ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence variations on RNA splicing propose that this variant may well develop or fortify a splice website. In summary, the available evidence is currently insufficient to ascertain the part of the variant in illness. Hence, it has been labeled as a Variant of Uncertain Importance. OK

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These citations are discovered by LitVar utilizing the rs variety, login thr777 so They might incorporate citations for multiple variant at this spot. Please evaluate the LitVar effects thoroughly in your variant of curiosity. Document final updated May twelve, 2024 

Stars symbolize the assessment standing, or the extent of evaluation supporting the submitted (SCV) document. This worth is calculated by NCBI depending on info from your submitter.

The global slight allele frequency calculated because of the a thousand Genomes Project. The minor allele at this place is indicated in parentheses and will be diverse with the allele represented by this VCV report.

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