ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively typical reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence variations on RNA splicing suggest that this variant may possibly develop or bolster a splice web site. In summary, the available evidence is now inadequate to find out the position of this variant in illness. Consequently, it has been categorised to be a Variant of Uncertain Significance.
This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' change, indicating 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 part of the consensus splice internet site for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been claimed in the literature in folks afflicted with GAA-related ailments.
This date signifies the last time this VCV document was current. The update may be as a consequence of an update to one of the bundled submitted records (SCVs), or as a result of an update that ClinVar designed towards the variant including including HGVS expressions or maybe a rs selection.
This column contains more info supporting the classification, which includes citations, the touch upon classification, and in depth proof delivered as observations with the variant by 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 people noticed with this particular variant.
The combination germline classification for this variant, typically for the monogenic or Mendelian dysfunction as in the ACMG/AMP suggestions, or for response into a drug. This worth is calculated by NCBI based upon details thr777 from submitters. Read our guidelines for calculating the aggregate classification.
There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that info to ClinVar.
The publishing Business for this submitted (SCV) report. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, along with the day that this SCV was last up-to-date in ClinVar.
These citations are identified by LitVar using the rs range, so They might consist of citations for more than one variant at this site. You should critique the LitVar outcomes diligently for the variant of fascination. History last up to date May well 19, 2024
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