Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000685826 | SCV000813325 | pathogenic | Distal spinal muscular atrophy, autosomal recessive 4; Charcot-Marie-Tooth disease, recessive intermediate c | 2019-06-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg848*) in the PLEKHG5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs770593694, ExAC 0.002%). This variant has not been reported in the literature in individuals with PLEKHG5-related disease. Loss-of-function variants in PLEKHG5 are known to be pathogenic (PMID: 17564964, 23777631). For these reasons, this variant has been classified as Pathogenic. |