Comment: This sequence change has an effect on codon 777 on the GAA mRNA. It's a 'silent' change, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which happens to be Section of the consensus splice web site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted while in the literature in people afflicted with GAA-connected disorders.
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So this day could possibly be unique with the date in the “most recent submission” reported at the top of the website page. Support Comply with NCBI
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There won't be any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, please take into account distributing that info to ClinVar.
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There isn't any useful proof in ClinVar for this variation. If you have generated practical facts for this variation, be sure to contemplate distributing that facts to ClinVar.