Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001874032 | SCV002120129 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2021-04-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys35Argfs*8) in the MECP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MECP2 are known to be pathogenic (PMID: 12180070). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MECP2-related conditions. For these reasons, this variant has been classified as Pathogenic. |