ClinVar consists of an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice site are a comparatively widespread reason for aberrant splicing (PMID: 17576681, 9536098). Algorithms produced to forecast the result of sequence changes on RNA splicing suggest that this variant may make or reinforce a splice site. In summary, the offered evidence is now inadequate to ascertain the part of the variant in ailment. Therefore, it has been labeled to be a Variant of Uncertain Importance.
This worth is calculated by NCBI based on details from submitters. Go through our procedures for calculating the overview status. The quantity of submissions which add to this review status is shown in parentheses.
There isn't any purposeful proof in ClinVar for this variation. If you have generated practical information for this variation, please contemplate distributing that details to ClinVar.
This column consists of more info supporting the classification, such as citations, the touch upon classification, and in depth evidence furnished as observations from the variant from the submitter.
The situation with the classification, provided by the submitter for this submitted (SCV) report. This column also features the impacted standing and allele origin of people noticed using this variant.
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There are no citations for germline classification of the variant in ClinVar. If you understand of citations for this variation, please contemplate submitting that information and facts to ClinVar.
The quantity of variants in ClinVar that are contained in this gene, that has a link to view the listing of variants.
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Stars symbolize the aggregate review standing, or the extent of evaluation supporting the mixture germline classification for this VCV document.
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