ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the result of sequence changes on RNA splicing suggest that this variant may produce or reinforce a splice web site. In summary, the readily available proof is at the moment insufficient to determine the function of the variant in sickness. Hence, it's been categorized as being a Variant of Unsure Significance.

This sequence alter has an effect on codon 777 in the GAA mRNA. It is a 'silent' adjust, this means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice web-site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been claimed inside the literature in people today affected with GAA-relevant disorders.

This date represents the last time this VCV file was current. The update could be as a consequence of an update to one of many involved submitted documents (SCVs), or due to an update that ClinVar produced on the variant for instance introducing HGVS expressions or simply a rs number.

This column involves more details supporting the classification, such as citations, the touch upon classification, and thorough evidence offered as observations in the variant via the submitter.

The problem for the classification, supplied by the submitter for this submitted (SCV) record. This column also incorporates the affected standing and allele origin of people noticed with this variant.

The aggregate germline classification for this variant, commonly for the monogenic or Mendelian dysfunction as in the ACMG/AMP recommendations, or for response to some drug. This worth is calculated by NCBI based upon facts from submitters. Browse our rules for calculating the aggregate classification.

There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think thr777 about submitting that information to ClinVar.

The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to watch the list of variants.

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Stars represent the combination overview status, or the extent of assessment supporting the aggregate germline classification for this VCV report.

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Stars represent the evaluation position, or the extent of assessment supporting the submitted (SCV) file. This worth is calculated by NCBI based upon knowledge through the submitter.