Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000796955 | SCV000936491 | pathogenic | not provided | 2018-12-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in IGF1R are known to be pathogenic (PMID: 14657428). This variant has not been reported in the literature in individuals with IGF1R-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys892Serfs*2) in the IGF1R gene. It is expected to result in an absent or disrupted protein product. |