ClinVar incorporates an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the impact of sequence modifications on RNA splicing recommend that this variant may possibly generate or fortify a splice web-site. In summary, the readily available evidence is at the moment insufficient to determine the role of the variant in ailment. Consequently, it's been categorised being a Variant of Uncertain Significance. (less)

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The amount of variants in ClinVar for this gene, such as lesser variants in the gene and larger CNVs that overlap or fully consist of the gene.

03%). This variant hasn't been documented inside the literature in folks impacted with GAA-similar conditions. ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively frequent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to forecast the influence of sequence variations on RNA splicing counsel that this variant may perhaps generate or improve a splice web site. In summary, the accessible proof is at this time insufficient to ascertain the part of the variant in ailment. Hence, it's been categorized for a Variant of Unsure Significance. Okay

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