ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively widespread explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the impact of sequence variations on RNA splicing counsel this variant may produce or reinforce a splice web site. In summary, the available proof is now insufficient to determine the role of the variant in disorder. For that reason, it has been classified being a Variant of Uncertain Significance.

This sequence improve influences codon 777 of the GAA mRNA. It is just a 'silent' alter, this means that it does not change the encoded amino acid sequence of your GAA protein. This variant also falls at the last nucleotide of exon sixteen, which is Element of the consensus splice internet site for this exon. This variant is existing in population databases (rs375311693, gnomAD 0.03%). This variant has not been described in the literature in men and women afflicted with GAA-associated circumstances.

There is not any purposeful proof in ClinVar for this variation. When you've got created useful knowledge for this variation, you should look at distributing that info to ClinVar.

This column consists of more details supporting the classification, such as citations, the touch upon classification, and thorough proof furnished as observations in the variant by the submitter.

The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted standing and allele origin of people observed using this variant.

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There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, you should consider publishing that facts to ClinVar.

The number of variants in ClinVar that are contained in just this gene, that has a url to check out the listing of variants.

These citations are discovered by LitVar using the rs variety, so They could contain citations for multiple variant at this location. You should evaluation the LitVar effects carefully for your variant of curiosity. Report last up to date May perhaps 19, 2024 

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Stars stand for the mixture assessment position, or the level of review supporting the combination germline classification for this VCV file.

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Stars depict the overview standing, or the level of evaluate thr777 supporting the submitted (SCV) history. This price is calculated by NCBI determined by knowledge from your submitter.