ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence improvements on RNA splicing propose that this variant may well develop or improve a splice web page. In summary, the accessible evidence is presently inadequate to ascertain the position of this variant in ailment. For that reason, it has been classified to be a Variant of Unsure Significance.
This sequence change influences codon 777 in the GAA mRNA. It's really a 'silent' modify, this means that it does not alter the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is Component of the consensus splice web page for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been noted during the literature in folks influenced with GAA-associated ailments.
There is not any functional proof in ClinVar for this variation. If you have created purposeful details for this variation, you should consider publishing that details to ClinVar.
This column includes additional information supporting the classification, like citations, the comment on classification, and detailed proof supplied as observations of your variant because of the submitter.
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The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as from the ACMG/AMP rules, or for response to your drug. This worth is calculated by NCBI depending on details from submitters. Read through our rules for calculating the aggregate classification.
Study our principles for calculating the assessment status. This column also features a link on the submitter’s assertion standards if provided, and the gathering strategy.
The publishing Business for this submitted (SCV) report. This column also contains the SCV accession and Variation range, the day this SCV first appeared in ClinVar, as thr777 well as date this SCV was last up to date in ClinVar.
These citations are identified by LitVar utilizing the rs number, so they may contain citations for more than one variant at this locale. Make sure you evaluation the LitVar effects carefully for the variant of desire. Report last current Might 19, 2024
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Stars characterize the mixture evaluation position, or the level of evaluation supporting the combination germline classification for this VCV file.
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