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The quantity of variants in ClinVar for this gene, such as more compact variants in the gene and bigger CNVs that overlap or absolutely comprise the gene.
ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web page are a comparatively prevalent reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the effect of sequence variations on RNA splicing propose this variant may possibly produce or fortify a splice web site. In summary, the offered proof is at the moment inadequate to determine the purpose of this variant in ailment. Consequently, it's been categorised like a Variant of Unsure Importance. Alright
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There is not any purposeful proof in ClinVar for this variation. In case you have created useful knowledge for this variation, remember to take into account distributing that information to ClinVar.
The distributing Firm for this submitted (SCV) file. This column also contains the SCV accession and version quantity, the day this SCV initially appeared in ClinVar, plus the date that this SCV was final updated in ClinVar.
This column involves more info supporting the classification, such as citations, the comment on classification, and specific proof provided as thr777 observations on the variant via the submitter.
The number of variants in ClinVar for this gene, which include lesser variants within the gene and bigger CNVs that overlap or fully incorporate the gene.
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This sequence adjust influences codon 777 on the GAA mRNA. This is a 'silent' adjust, that means that it does not change the encoded amino acid sequence of the GAA protein. This variant also falls at the final nucleotide of exon 16, which can be Portion of the consensus splice website for this exon. This variant is present in inhabitants databases (rs375311693, gnomAD 0.03%). This variant has not been noted in the literature in men and women impacted with GAA-associated conditions.
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