The outcome of the variant on RNA or protein functionality, depending on experimental proof from submitters.

This sequence modify impacts codon 777 of the GAA mRNA. This is a 'silent' alter, this means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon 16, that is part of the consensus splice web page for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported in the literature in individuals afflicted with GAA-connected conditions.

This day represents the final time this VCV history was up to date. The update might be resulting from an update to one of many involved submitted data (SCVs), or due to an update that ClinVar manufactured to your variant such as incorporating HGVS expressions or even a rs variety.

This column incorporates additional information supporting the classification, which includes citations, the touch upon classification, and specific evidence delivered as observations on the variant from the submitter.

The condition for that classification, provided by the submitter for this submitted (SCV) report. This column also consists of the afflicted status and allele origin of individuals noticed with this variant.

The mixture germline classification for this variant, normally for the monogenic or Mendelian ailment as in the ACMG/AMP tips, or for reaction to your drug. This price is calculated by NCBI based on knowledge from submitters. Study our rules for calculating the mixture classification.

Go through our principles for calculating the evaluate position. This column also features a hyperlink for the submitter’s assertion criteria if provided, and the gathering strategy.

The distributing Corporation for this submitted (SCV) report. This column also includes the SCV accession and Edition amount, the day thr777 this SCV initial appeared in ClinVar, plus the date this SCV was last updated in ClinVar.

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Stars signify the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV history.

The amount of variants in ClinVar for this gene, like more compact variants in the gene and bigger CNVs that overlap or fully incorporate the gene.

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