ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.387-6394G>C

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224696 SCV003920103 uncertain significance Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 2021-03-30 criteria provided, single submitter clinical testing KCNQ1 NM_000218.2 exon 1 c.387-6394G>C: This variant has not been reported in the literature but is present in 0.1% (21/15218) of African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs528825731). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. This variant is a deep intronic variant; splice prediction tools are unavailable. Further studies are needed to understand its impact. Review of this variant suggests that this variant may be coding on a minor transcript; however, there is insufficient evidence for interpretation. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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