ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively prevalent reason behind aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence adjustments on RNA splicing advise that this variant may well generate or improve a splice web site. In summary, the offered evidence is at this time insufficient to ascertain the job of the variant in sickness. Consequently, it's been classified as a Variant of Unsure Significance.
This sequence change influences codon 777 in the GAA mRNA. It's really a 'silent' adjust, that means that it doesn't change the encoded amino acid sequence from the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be Component of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed during the literature in persons affected with GAA-linked disorders.
There's no purposeful proof in ClinVar for this variation. When you've got created useful facts for this variation, be sure to consider publishing that facts to ClinVar.
The worldwide slight allele frequency calculated through the one thousand Genomes Project. The insignificant allele at this locale is indicated in parentheses and should be distinct from your allele represented by this VCV record.
The situation with the classification, provided by the submitter for this submitted (SCV) history. This column also contains the afflicted status and allele origin of individuals noticed with this variant.
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There are no citations for germline classification of the variant in ClinVar. If you know of citations for this variation, please think about publishing that information and facts to ClinVar.
The publishing Firm for this submitted (SCV) record. This column also incorporates the SCV accession and Edition selection, the date this SCV to start with appeared in ClinVar, plus the date that this SCV was very last updated in ClinVar.
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The number of variants in ClinVar for this gene, which include smaller sized variants in the gene and larger CNVs that overlap or entirely contain the gene.
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