ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web-site are a relatively prevalent explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to predict the outcome of sequence improvements on RNA splicing recommend this variant may develop or reinforce a splice web-site. In summary, the out there proof is at the moment insufficient to ascertain the part of this variant in condition. For that reason, it's been categorised like a Variant of Uncertain Significance.

This sequence transform has an effect on codon 777 with the GAA mRNA. It is just a 'silent' improve, this means that it does not change the encoded amino acid sequence with the GAA protein. This variant also falls at the last nucleotide of exon 16, and that is Portion of the consensus splice site for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant has not been claimed from the literature in persons impacted with GAA-associated situations.

There's no practical proof in ClinVar for this variation. When you've got produced purposeful knowledge for this variation, remember to look at publishing that details to ClinVar.

This column involves additional information supporting the classification, including citations, the comment on classification, and thorough proof supplied as observations in the variant with the submitter.

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Read through our principles for calculating the evaluate status. This column also features a backlink on the submitter’s assertion requirements if provided, and the gathering strategy.

The quantity of variants in ClinVar which might be contained inside of this gene, that has a backlink to look at the listing of variants.

These citations are determined by LitVar using the rs selection, so they may involve citations for more than one variant at this site. Remember to critique the LitVar results carefully on your variant of curiosity. Document very last current Could 19, 2024 

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Stars stand for the combination assessment status, or the extent of overview supporting the combination germline classification for this VCV report.

The volume of variants in ClinVar for this gene, including lesser variants in the gene and bigger CNVs that overlap or thoroughly contain the gene.

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Stars represent the evaluate standing, or the extent of evaluation supporting the submitted (SCV) file. This worth is calculated by NCBI based on details with the submitter.