ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice website are a relatively popular cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the influence of sequence adjustments on RNA splicing counsel this variant may possibly generate or reinforce a splice site. In summary, the readily available evidence is presently inadequate to find out the position of the variant in illness. For that reason, it's been categorised like a Variant of Unsure Importance.
This value is calculated by NCBI depending on info from submitters. Examine our regulations for calculating the evaluation standing. The number of submissions which add to this overview standing is shown in parentheses.
This date represents the last time this VCV history was updated. The update may be due to an update to on the list of involved submitted documents (SCVs), or as a consequence of an update that ClinVar made for the variant for instance introducing HGVS expressions or perhaps a rs range.
This column incorporates more info supporting the classification, which includes citations, the touch upon classification, and specific evidence provided as observations with the variant through the submitter.
The situation with the classification, supplied by the submitter for this submitted (SCV) document. This column also includes the affected standing and allele origin of people noticed with this variant.
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Read our principles for calculating the evaluate status. This column also features a link to the submitter’s assertion criteria if supplied, and the gathering strategy.
The submitting Group for this submitted (SCV) record. This column also features the SCV accession and Model number, the day this SCV initial appeared in ClinVar, thr777 as well as date that this SCV was past up to date in ClinVar.
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Stars represent the combination overview position, or the level of evaluation supporting the combination germline classification for this VCV file.
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