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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the influence of sequence improvements on RNA splicing advise that this variant could produce or strengthen a splice site. In summary, the available evidence is presently inadequate to determine the job of this variant in illness. Consequently, it's been categorised being a Variant of Unsure Significance. Okay
These citations are recognized by LitVar utilizing the rs quantity, so They could consist of citations for multiple variant at this spot. Please evaluate the LitVar final results diligently to your variant of desire. Document previous current Might 19, 2024
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This column includes more details supporting the classification, like citations, the touch upon classification, and detailed evidence offered as observations with the variant by the submitter.
The volume of variants in ClinVar for this gene, such as scaled-down variants within the gene and larger CNVs that overlap or thoroughly contain the gene.
The amount of variants in ClinVar which might be contained within just this gene, with a link to see the listing of variants.
This date represents the last time this VCV file was current. The update may be resulting from an update to one of the provided submitted documents (SCVs), or because of an update that ClinVar manufactured into the variant like including HGVS expressions or possibly a rs selection.
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This sequence modify influences codon 777 with the GAA mRNA. It is just a 'silent' transform, meaning that it doesn't alter the encoded amino acid sequence with the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which happens to be Element of the consensus splice web-site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been described while in the literature in people today afflicted with GAA-associated ailments.
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