Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659839 | SCV000781710 | likely pathogenic | Rett syndrome | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000706646 | SCV000835710 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2023-08-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MECP2 protein in which other variant(s) (p.Leu386Glnfs*4) have been determined to be pathogenic (PMID: 10814718, 17387578, 19371229, 19914908, 22525432). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 547514). This premature translational stop signal has been observed in individual(s) with clinical features of MECP2-related condition (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala281Profs*8) in the MECP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 206 amino acid(s) of the MECP2 protein. |