Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000822577 | SCV000963386 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2018-11-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MECP2 are known to be pathogenic (PMID: 12180070). This variant has not been reported in the literature in individuals with MECP2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala8Glyfs*36) in the MECP2 gene. It is expected to result in an absent or disrupted protein product. The MECP2 gene has multiple clinically relevant transcripts. The p.Ala8Glyfs*36 variant occurs in alternate transcript NM_001110792.1, which corresponds to position c.-138del in NM_004992.3, the primary transcript listed in the Methods. |