The result in the variant on RNA or protein function, determined by experimental evidence from submitters.
This sequence alter has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence on the GAA protein. This variant also falls at the final nucleotide of exon 16, and that is Section of the consensus splice site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted in the literature in people today impacted with GAA-linked conditions.
This date represents the final time this VCV history was updated. The update could possibly be because of an update to one of several included submitted records (SCVs), or because of an update that ClinVar built for the variant for example incorporating HGVS expressions or simply a rs number.
This column consists of more information supporting the classification, together with citations, the touch upon classification, and specific evidence delivered as observations of your variant through the submitter.
The affliction for that classification, supplied by the submitter for this submitted (SCV) history. This column also incorporates the impacted position and allele origin of individuals observed using this variant.
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There won't be any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, please think about submitting that information to ClinVar.
The distributing Business for this submitted (SCV) history. This column also involves the SCV accession and version amount, the day this SCV 1st appeared in ClinVar, and also the day this SCV was final current in ClinVar.
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Stars represent the combination overview status, or the extent of overview supporting the aggregate germline classification for this VCV history.
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