The outcome with the variant on RNA or protein purpose, depending on experimental proof from submitters.

This sequence transform impacts codon 777 in the GAA mRNA. This is a 'silent' alter, meaning that it doesn't alter the encoded amino acid sequence in the GAA protein. This variant also falls at the last nucleotide of exon 16, which can be Portion of the consensus splice internet site for this exon. This variant is existing in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been documented in the literature in people today afflicted with GAA-associated conditions.

There is absolutely no practical evidence in ClinVar for this variation. When you've got generated functional knowledge for this variation, please look at submitting that information to ClinVar.

The global insignificant allele frequency calculated through the a thousand Genomes Challenge. The small allele at this place is indicated in parentheses and may be distinctive within the allele represented by this VCV report.

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The mixture germline classification for this variant, ordinarily to get a monogenic or Mendelian condition as while in the ACMG/AMP rules, or for reaction to the drug. This benefit is calculated by NCBI according to info from submitters. Read through our regulations for calculating the combination classification.

There won't be any citations for germline classification of the variant in ClinVar. If you recognize of citations for this variation, you should take into consideration publishing that facts to ClinVar.

The publishing Group for this submitted (SCV) document. This column also features the SCV accession and Model amount, the day this SCV very first appeared in ClinVar, and the date this SCV was thr777 last up-to-date in ClinVar.

These citations are recognized by LitVar utilizing the rs number, so They might involve citations for more than one variant at this place. Be sure to assessment the LitVar results thoroughly for the variant of curiosity. Report last up to date May possibly 19, 2024 

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

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