ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively widespread reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the impact of sequence improvements on RNA splicing counsel this variant may create or improve a splice web page. In summary, the obtainable evidence is presently insufficient to ascertain the purpose of the variant in ailment. As a result, it has been classified to be a Variant of Unsure Significance.

This sequence improve impacts codon 777 of the GAA mRNA. It is just a 'silent' modify, this means that it does not alter the encoded amino acid sequence of the GAA protein. This variant also falls at the last nucleotide of exon sixteen, that is part of the consensus splice website for this exon. This variant is current in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in people influenced with GAA-linked circumstances.

There isn't any practical evidence in ClinVar for this variation. When you have generated practical info for this variation, remember to contemplate submitting that information to ClinVar.

The worldwide insignificant allele frequency calculated because of the one thousand Genomes Undertaking. The small allele at this place is indicated in parentheses and may be different within the allele represented by this VCV report.

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There aren't any citations for germline classification of this variant in ClinVar. If you already know of citations for this variation, be sure to think about submitting that details to ClinVar.

The publishing Group for this submitted (SCV) file. This column also includes the SCV accession and Edition number, the date this SCV first appeared in ClinVar, as well as date that this SCV was past up to date in ClinVar.

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Stars signify the combination critique standing, or the extent of critique supporting the aggregate germline classification for this VCV history.

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Stars signify the evaluation status, or the extent of critique supporting the submitted (SCV) report. This price is calculated by NCBI depending on info from your submitter.