Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Genomics, |
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. |