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Stars characterize the combination assessment standing, or the level of evaluation supporting the aggregate germline classification for this VCV history.

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03%). This variant has not been reported during the literature in persons impacted with GAA-related disorders. ClinVar is made up of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively widespread cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms designed to predict the influence of sequence modifications on RNA splicing counsel that this variant may perhaps develop or strengthen a splice internet site. In summary, the accessible proof is currently insufficient to ascertain the function of this variant in sickness. slot thr777 As a result, it's been classified to be a Variant of Uncertain Significance. Alright

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These citations are determined by LitVar using the rs quantity, so they may consist of citations for multiple variant at this site. You should assessment the LitVar outcomes carefully for your personal variant of fascination. Document past up-to-date Might twelve, 2024 

Stars stand for the critique standing, or the level of critique supporting the submitted (SCV) file. This value is calculated by NCBI based on facts from your submitter.

The impact on the variant on RNA or protein function, determined by experimental proof from submitters.

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