Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825590 | SCV000966932 | likely pathogenic | Congenital long QT syndrome | 2018-10-21 | criteria provided, single submitter | clinical testing | The c.1685+2T>G variant in KCNQ1 has not been previously reported in individuals with long QT syndrome (LQTS) or in large population studies. This variant occur s in the invariant region (+/- 1,2) of the splice consensus sequence and is pred icted to cause altered splicing leading to an abnormal or absent protein. Hetero zygous loss of function of the KCNQ1 gene is an established disease mechanism in individuals with LQTS. In summary, although additional studies are required to fully establish its clinical significance, the c.1685+2T>G variant meets criteri a to be classified as likely pathogenic for autosomal dominant LQTS based upon t he predicted impact on the protein and its absence from the general population. ACMG/AMP criteria applied: PVS1, PM2. |
Juno Genomics, |
RCV004796329 | SCV005417616 | likely pathogenic | Atrial fibrillation, familial, 3; Long QT syndrome 1; Jervell and Lange-Nielsen syndrome 1; Short QT syndrome type 2 | criteria provided, single submitter | clinical testing | PM2_Supporting+PVS1 |