ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a comparatively prevalent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to forecast the effect of sequence adjustments on RNA splicing counsel this variant may produce or reinforce a splice web site. In summary, the readily available evidence is at present insufficient to determine the part of the variant in condition. As a result, it has been classified as a Variant of Unsure Significance.

This sequence modify has an effect on codon 777 on the GAA mRNA. It is a 'silent' transform, which means that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the final nucleotide of exon 16, that's Portion of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported while in the literature in people today impacted with GAA-linked conditions.

There isn't any practical evidence in ClinVar for this variation. When you've got created useful facts for this variation, be sure to consider publishing that facts to ClinVar.

This column features more info supporting the classification, such as citations, the touch upon classification, and thorough evidence offered as observations of your variant because of the submitter.

The issue for your classification, furnished by the submitter for this submitted (SCV) history. This column also features the afflicted status and allele origin of people observed using this variant.

The aggregate germline classification for this variant, normally for your monogenic or Mendelian ailment as in the ACMG/AMP suggestions, or for response into a drug. This benefit is calculated by NCBI according to info from submitters. Read through our regulations for calculating the combination classification.

Browse our regulations for calculating the critique standing. This column also features a link towards the submitter’s assertion requirements if furnished, and the gathering system.

The quantity of variants in ClinVar which are contained within this gene, that has a url to look at the listing of variants.

These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for more than one variant at this locale. You should review the LitVar benefits carefully for the variant of fascination. Record past updated May well 19, 2024 

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

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