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Stars symbolize the evaluate status, or the extent of evaluation supporting the submitted (SCV) report. This value is calculated by NCBI determined by data from the submitter.
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ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to predict the outcome of sequence alterations on RNA splicing suggest that this variant may well develop or fortify a splice web site. In summary, the available evidence is currently insufficient to ascertain the function of the variant in disease. For that reason, it has been categorised as being a Variant of Unsure Importance. Alright
These citations are determined by LitVar utilizing the rs quantity, so They could consist of citations for multiple variant at this location. Remember to evaluate the LitVar final results diligently to your variant of fascination. History final updated May possibly 19, 2024
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The distributing Group for this submitted (SCV) file. This column also involves the SCV accession and Edition quantity, the day this SCV initially appeared in ClinVar, along with the date this SCV was very last up to date in ClinVar.
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This date represents the final time this VCV history was updated. The update could possibly be due to an update to one of several bundled submitted records (SCVs), or as a result of an update that ClinVar designed to the variant including adding HGVS expressions or even a rs range.
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This sequence alter affects codon 777 of the GAA mRNA. It is a 'silent' change, meaning that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, which happens to be Element of the consensus splice web-site for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been described in the literature in people today influenced with GAA-connected circumstances.
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