Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001383399 | SCV001582532 | pathogenic | not provided | 2018-08-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IKBKAP are known to be pathogenic (PMID: 18303054, 24173031). This variant has not been reported in the literature in individuals with IKBKAP-related disease. This sequence change creates a premature translational stop signal (p.Ser669*) in the IKBKAP gene. It is expected to result in an absent or disrupted protein product. |