ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively common reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the impact of sequence variations on RNA splicing suggest that this variant might generate or improve a splice web page. In summary, the accessible evidence is at present insufficient to determine the role of the variant in sickness. Therefore, it's been labeled like a Variant of Uncertain Importance.

This sequence adjust affects codon 777 on the GAA mRNA. It's a 'silent' change, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which is A part of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described within the literature in persons affected with GAA-relevant disorders.

This date represents the last time this VCV file was up-to-date. The update may be as a consequence of an update to one of many provided submitted data (SCVs), or due to an update that ClinVar created to the variant like adding HGVS expressions or simply a rs selection.

The global insignificant allele frequency calculated via the a thousand Genomes Task. The slight allele at this site is indicated in parentheses and should be different from the allele represented by this VCV history.

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There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, be sure to consider publishing that information and facts to ClinVar.

The distributing organization for this submitted (SCV) report. This column also contains the SCV accession and Variation variety, the date this SCV 1st appeared in ClinVar, as well as the day this SCV was previous current in ClinVar.

These citations are determined by LitVar utilizing the rs amount, so They could consist of citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently to your variant of curiosity. Report previous up-to-date May 19, 2024 

Aberrant 5' splice internet sites in human ailment genes: mutation pattern, nucleotide structure and comparison of computational tools that forecast their utilization.

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The number of variants in ClinVar for this gene, together with more compact variants within the gene and larger CNVs that overlap or thr777 entirely have the gene.

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