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Comment: This sequence transform affects codon 777 of the GAA mRNA. This is a 'silent' adjust, meaning that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice web-site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been documented from the literature in people today afflicted with GAA-associated situations.

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ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a comparatively common reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the influence of sequence alterations on RNA splicing suggest this variant might produce or strengthen a splice site. In summary, the readily available evidence is at this time insufficient to find out the function of this variant in illness. Hence, it's been classified for a Variant of Uncertain Significance. (a lot less)

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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 think about submitting that information to ClinVar.

The worldwide insignificant allele frequency calculated by the 1000 Genomes Task. The minimal allele at this location is indicated in parentheses and may be distinct through the allele represented by this VCV report.

There is no functional evidence in ClinVar for this variation. In case you have created purposeful information for this variation, remember to take into consideration submitting that information to ClinVar.