ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively frequent cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to forecast the result of sequence alterations on RNA splicing suggest that this variant may possibly make or bolster a splice internet site. In summary, the obtainable evidence is at present insufficient to ascertain the job of the variant in ailment. As a result, it's been classified for a Variant of Unsure Importance.
This price is calculated by NCBI based on info from submitters. Examine our rules for calculating the assessment status. The volume of submissions which lead to this assessment status is revealed in parentheses.
There isn't any functional evidence in ClinVar for this variation. When you've got produced functional details for this variation, you should take into consideration submitting that facts to ClinVar.
This column involves more info supporting the classification, which includes citations, the touch upon classification, and specific evidence delivered as observations with the variant from the submitter.
The affliction for the classification, supplied by the submitter for this submitted (SCV) record. This column also includes the impacted standing and allele origin of people observed with this variant.
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There won't be any citations for germline classification of this variant in ClinVar. If you realize of citations for thr777 this variation, be sure to look at publishing that data to ClinVar.
The publishing Business for this submitted (SCV) document. This column also consists of the SCV accession and version number, the day this SCV very first appeared in ClinVar, as well as the day this SCV was last current in ClinVar.
These citations are determined by LitVar using the rs range, so they may include citations for more than one variant at this locale. Remember to evaluate the LitVar final results thoroughly for your personal variant of desire. Document final current May possibly 19, 2024
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Stars represent the combination overview status, or the extent of review supporting the mixture germline classification for this VCV document.
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Stars characterize the critique standing, or the level of review supporting the submitted (SCV) history. This benefit is calculated by NCBI dependant on facts with the submitter.