ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the influence of sequence alterations on RNA splicing recommend this variant might produce or bolster a splice site. In summary, the available evidence is now inadequate to determine the function of the variant in condition. As a result, it has been labeled as being a Variant of Unsure Significance.
This sequence transform has an effect on codon 777 of the GAA mRNA. It is just a 'silent' modify, which means that it does not change the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is Component of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported in the literature in persons influenced with GAA-linked circumstances.
There is absolutely no useful proof in ClinVar for this variation. If you have generated functional information for this variation, you should take into consideration publishing that data to ClinVar.
This column consists of more details supporting the classification, like citations, the comment on classification, and in-depth evidence presented as observations from the variant via the submitter.
The affliction for your classification, furnished by the submitter for this submitted (SCV) document. This column also features the impacted position and allele origin of individuals noticed using this type of variant.
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Read our regulations for calculating the critique standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection method.
The number of variants in ClinVar which have been contained within just this gene, by using a hyperlink to view the listing of variants.
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The volume of variants in ClinVar for this gene, like smaller variants in the gene and bigger CNVs that overlap or completely comprise the gene.
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