The combination germline classification for this variant, commonly for the monogenic or Mendelian problem as within the ACMG/AMP suggestions, or for response into a drug. This value is calculated by NCBI based on details from submitters. Examine our principles for calculating the combination classification.
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This sequence change has an effect on codon 777 on the GAA mRNA. This is a 'silent' alter, this means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon 16, which is part of the consensus splice web-site for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been noted in the literature in people afflicted with GAA-related circumstances.
The submitting organization for this submitted (SCV) record. This column also consists of the SCV accession and version amount, the date this SCV 1st appeared in ClinVar, as well as date this SCV was final updated in ClinVar.
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