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This column features more details supporting the classification, including citations, the comment on classification, and specific evidence presented as observations on the variant with the submitter.

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The quantity of variants in ClinVar for this gene, like smaller sized variants throughout the gene and larger CNVs that overlap or fully consist of the gene.

03%). This variant has not been claimed from the literature in men and women impacted with GAA-related disorders. ClinVar has an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively popular reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the result of sequence changes on RNA splicing advise that this variant may well build or bolster a splice site. In summary, the readily available evidence is at this time insufficient to find out the role of the variant in illness. Hence, it has been categorised like a Variant of Unsure Significance. OK

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These citations are identified by LitVar utilizing the rs selection, so They could include things like citations for multiple variant at this site. You should overview the LitVar benefits meticulously on your variant of curiosity. Document last current May well 12, 2024 

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The worldwide minimal allele frequency calculated by the slot thr777 1000 Genomes Undertaking. The slight allele at this site is indicated in parentheses and could be distinctive from the allele represented by this VCV record.

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