The outcome on the variant on RNA or protein purpose, dependant on experimental evidence from submitters.
This sequence adjust impacts codon 777 from the GAA mRNA. It's a 'silent' alter, indicating that it doesn't change the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon 16, that is Component of the consensus splice website for this exon. This variant is current in population databases (rs375311693, gnomAD 0.03%). This variant has not been documented within the literature in people afflicted with GAA-linked disorders.
This date represents the final time this VCV record was up-to-date. The update can be because of an update to one of many included submitted information (SCVs), or because of an update that ClinVar designed into the variant including introducing HGVS expressions or possibly a rs selection.
This column involves additional information supporting the classification, like citations, the comment on classification, and thorough evidence provided as observations on the variant with the submitter.
The ailment with the classification, furnished by the submitter for this submitted (SCV) record. This column also incorporates the impacted position and allele origin of people observed using this type of variant.
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There won't be any citations for germline classification of the variant in ClinVar. If you realize of citations for this variation, remember to look at distributing that details to ClinVar.
The publishing Business for this submitted (SCV) history. This column also incorporates the SCV accession and version selection, the date this SCV to start with appeared in ClinVar, along with the day that this SCV was previous updated in ClinVar.
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