Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001226079 | SCV001398375 | pathogenic | Spondyloenchondrodysplasia with immune dysregulation | 2019-07-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ACP5 are known to be pathogenic (PMID: 21217752, 21217755). This variant has not been reported in the literature in individuals with ACP5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Leu15Profs*8) in the ACP5 gene. It is expected to result in an absent or disrupted protein product. |