Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000548008 | SCV000627397 | pathogenic | Long QT syndrome | 2017-04-05 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal at codon 278 (p.Tyr278*) of the KCNQ1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in KCNQ1 are known to be pathogenic (PMID: 19862833). |