Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228826 | SCV001401246 | pathogenic | not provided | 2019-10-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in LRPPRC are known to be pathogenic (PMID: 26510951). This variant has not been reported in the literature in individuals with LRPPRC-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr112Asnfs*10) in the LRPPRC gene. It is expected to result in an absent or disrupted protein product. |