Remark: This sequence modify affects codon 777 of your GAA mRNA. It is a 'silent' improve, indicating that it does not alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, that is Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported from the literature in folks afflicted with GAA-connected conditions.
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ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the effect of sequence variations on RNA splicing propose this variant may possibly produce or fortify a splice web site. In summary, the available proof is presently insufficient to ascertain the part of this variant in sickness. As a result, it's been classified being a Variant of Unsure Significance. Okay
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The publishing Firm for this submitted (SCV) history. This column also contains the SCV accession and Variation amount, the date this SCV very first appeared in ClinVar, and the date that this SCV was final up-to-date in ClinVar.
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The influence on the variant on RNA or protein purpose, determined by experimental evidence from submitters.
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