Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707560 | SCV000836661 | pathogenic | Ritscher-Schinzel syndrome 1; Hereditary spastic paraplegia 8 | 2018-03-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg228*) in the WASHC5 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs754463353, ExAC 0.001%). This variant has not been reported in the literature in individuals with WASHC5-related disease. Loss-of-function variants in WASHC5 are known to be pathogenic (PMID: 24065355). For these reasons, this variant has been classified as Pathogenic. |