The impact from the variant on RNA or protein perform, determined by experimental evidence from submitters.

This sequence modify affects codon 777 of the GAA mRNA. It's really a 'silent' alter, which means that it doesn't alter the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon 16, and that is Component of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in folks affected with GAA-connected circumstances.

This date represents the final time this VCV file was updated. The update may very well be as a result of an update to on the list of incorporated submitted data (SCVs), or due to an update that ClinVar built for the variant for instance incorporating HGVS expressions or simply a rs number.

The worldwide insignificant allele frequency calculated from the a thousand Genomes Challenge. The minimal allele at this spot is indicated in parentheses and should be diverse from your allele represented by this VCV document.

The ailment for the classification, supplied by the submitter for this submitted (SCV) history. This column also incorporates the afflicted position and allele origin of individuals observed using this type of variant.

The combination germline classification for this variant, usually thr777 for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI determined by knowledge from submitters. Study our policies for calculating the mixture classification.

Go through our principles for calculating the evaluation status. This column also features a url for the submitter’s assertion requirements if provided, and the gathering method.

The distributing Business for this submitted (SCV) record. This column also incorporates the SCV accession and version number, the date this SCV initial appeared in ClinVar, plus the date that this SCV was past up to date in ClinVar.

These citations are discovered by LitVar using the rs range, so they may incorporate citations for multiple variant at this area. Be sure to evaluation the LitVar effects cautiously in your variant of interest. Document previous current May 19, 2024 

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Stars characterize the aggregate review position, or the level of review supporting the mixture germline classification for this VCV document.

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Stars depict the overview standing, or the level of evaluate supporting the submitted (SCV) record. This benefit is calculated by NCBI based on information with the submitter.