ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the effect of sequence adjustments on RNA splicing recommend this variant might produce or strengthen a splice site. In summary, the available evidence is at this time insufficient to ascertain the function of this variant in illness. Hence, it has been labeled to be a Variant of Unsure Importance.

This sequence transform affects codon 777 on the GAA mRNA. It is just a 'silent' alter, that means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which can be Section of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been documented during the literature in folks influenced with GAA-related problems.

This day signifies the final time this VCV record was updated. The update might be because of an update to one of several bundled submitted records (SCVs), or as a result of an update that ClinVar manufactured into the variant such as adding HGVS expressions or perhaps a rs amount.

This column involves more information supporting the classification, together with citations, the touch upon classification, and detailed proof offered as observations in the variant by thr777 the submitter.

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The combination germline classification for this variant, typically for any monogenic or Mendelian problem as from the ACMG/AMP guidelines, or for reaction to a drug. This value is calculated by NCBI according to info from submitters. Read through our policies for calculating the mixture classification.

There won't be any citations for germline classification of this variant in ClinVar. If you understand of citations for this variation, remember to take into account submitting that info to ClinVar.

The publishing Business for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, and also the day this SCV was last current in ClinVar.

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Aberrant 5' splice web sites in human condition genes: mutation pattern, nucleotide composition and comparison of computational applications that forecast their utilization.

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The volume of variants in ClinVar for this gene, which includes smaller variants in the gene and bigger CNVs that overlap or totally consist of the gene.

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Stars signify the evaluation status, or the extent of overview supporting the submitted (SCV) file. This worth is calculated by NCBI according to data from the submitter.