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ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a relatively typical explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the effect of sequence modifications on RNA splicing propose that this variant may create or bolster a splice web site. In summary, the obtainable proof is at the moment insufficient to find out the job of the variant in ailment. Consequently, it's been labeled being a Variant of Uncertain Importance. (a lot less)
So this date could possibly be distinct within the day on the “most up-to-date submission” noted at the top of the website page. Support Stick to NCBI
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The publishing organization for this submitted (SCV) document. This column also features the SCV accession and Variation quantity, the day this SCV very first appeared in ClinVar, and the date this SCV was past up-to-date in ClinVar.
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The publishing Corporation for this submitted (SCV) report. This column also consists of the SCV accession and Model selection, the date this SCV very first appeared in ClinVar, and also the date this SCV was last current in ClinVar.
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The aggregate germline classification for this variant, typically for a monogenic or Mendelian ailment as during the ACMG/AMP pointers, or for response to some drug. This value is calculated by NCBI according to data from submitters. Examine our principles for calculating the combination classification.
This sequence transform has an effect on codon 777 of your GAA mRNA. It's really a 'silent' transform, indicating that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon sixteen, and that is part of the consensus splice web site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in people today influenced with GAA-connected situations.
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