ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms formulated to forecast the outcome of sequence alterations on RNA splicing suggest that this variant might develop or fortify a splice site. In summary, the offered evidence is presently insufficient to determine the part of this variant in condition. As a result, it's been classified like a Variant of Uncertain Significance.
This sequence improve influences codon 777 from the GAA mRNA. It's really a 'silent' modify, this means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, that's Section of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in people influenced with GAA-similar problems.
There is not any useful evidence in ClinVar for this variation. In case you have produced practical details for this variation, be sure to contemplate submitting that data to ClinVar.
This column contains more information supporting the classification, including citations, the comment on classification, and in depth proof provided as observations with the variant with the submitter.
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The aggregate germline classification for this variant, commonly for the monogenic or Mendelian condition as within the ACMG/AMP suggestions, or for response to the drug. This value is calculated by NCBI based upon details from submitters. Read through our procedures for calculating the mixture classification.
Read through our rules for calculating the overview position. This column also includes a url into the submitter’s assertion standards if offered, and the gathering technique.
The amount of variants in ClinVar that are contained in just this gene, that has a website link to view the list of variants.
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The volume of variants in ClinVar for this gene, which includes lesser variants in the gene and larger CNVs that overlap or completely include the gene.
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