ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively frequent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms created to predict the result of sequence changes on RNA splicing suggest this variant could generate or improve a splice web page. In summary, the accessible proof is currently insufficient to find out the part of this variant in disorder. Thus, it has been categorized being a Variant of Uncertain Importance.

This sequence change influences codon 777 from the GAA mRNA. It's really a 'silent' modify, this means that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice web-site for this exon. This variant is current in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been noted from the literature in individuals impacted with GAA-linked circumstances.

There isn't any purposeful proof in ClinVar for this variation. When you've got generated useful info for this variation, remember to think about submitting that data to ClinVar.

This column features additional information supporting the classification, which includes citations, the touch upon classification, and specific evidence delivered as observations on the variant from the submitter.

The thr777 condition for that classification, provided by the submitter for this submitted (SCV) record. This column also features the impacted standing and allele origin of individuals observed using this type of variant.

The mixture germline classification for this variant, commonly for a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for reaction into a drug. This benefit is calculated by NCBI based upon data from submitters. Study our regulations for calculating the combination classification.

There isn't any citations for germline classification of the variant in ClinVar. If you are aware of of citations for this variation, make sure you contemplate submitting that details to ClinVar.

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

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Stars symbolize the mixture evaluate standing, or the level of evaluation supporting the aggregate germline classification for this VCV history.

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