ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a relatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the outcome of sequence adjustments on RNA splicing advise that this variant could build or strengthen a splice web page. In summary, the accessible evidence is presently insufficient to find out the position of the variant in disease. Consequently, it has been classified for a Variant of Uncertain Significance.

This sequence alter has an effect on codon 777 from the GAA mRNA. This is a 'silent' modify, meaning 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, and that is Component of the consensus splice web site for this exon. This variant is existing in inhabitants databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in folks influenced with GAA-relevant conditions.

There is not any useful evidence in ClinVar for this variation. Should you have produced practical knowledge for this variation, you should contemplate distributing that data to ClinVar.

This column includes more info supporting the classification, like citations, the comment on classification, and in depth proof presented as observations of your variant because of the submitter.

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Browse our procedures for calculating the evaluate standing. This column also includes a link into the submitter’s assertion standards if presented, and the collection process.

The distributing organization for this submitted (SCV) history. This column also involves the SCV accession and version range, the date this SCV initially appeared in ClinVar, as well as the day this thr777 SCV was previous current in ClinVar.

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Aberrant five' splice web pages in human sickness genes: mutation sample, nucleotide framework and comparison of computational equipment that predict their utilization.

Stars stand for the mixture assessment status, or the extent of assessment supporting the aggregate germline classification for this VCV report.

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