ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the result of sequence modifications on RNA splicing recommend that this variant may perhaps produce or bolster a splice web-site. In summary, the available proof is now inadequate to find out the job of the variant in disease. Thus, it has been labeled being a Variant of Uncertain Importance.
This benefit is calculated by NCBI based upon knowledge from submitters. Go through our guidelines for calculating the evaluate standing. The number of submissions which add to this assessment position is proven in parentheses.
This day signifies the final time this VCV document was up to date. The update might be because of an update to one of several bundled submitted records (SCVs), or as a result of an update that ClinVar manufactured into the variant such as adding HGVS expressions or simply a rs number.
This column involves more info supporting the classification, which include citations, the comment on classification, and in-depth evidence provided as observations with the variant because of the submitter.
The situation with the classification, furnished by the submitter for this submitted (SCV) report. This column also consists of the affected standing and allele origin of individuals noticed using this variant.
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Browse our rules for calculating the evaluation position. This column also features a connection towards the submitter’s assertion criteria if offered, and the collection approach.
The quantity of variants in ClinVar which thr777 have been contained in just this gene, with a url to watch the list of variants.
These citations are recognized by LitVar utilizing the rs quantity, so They might consist of citations for multiple variant at this spot. Make sure you review the LitVar final results meticulously to your variant of fascination. History last current Might 19, 2024
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