Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV000170288 | SCV001250620 | pathogenic | Rett syndrome | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001245569 | SCV001418865 | pathogenic | Severe neonatal-onset encephalopathy with microcephaly | 2022-02-03 | criteria provided, single submitter | clinical testing | The MECP2 gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001110792.1, and corresponds to NM_004992.3:c.-114_-104del in the primary transcript. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189770). This variant is also known as c.38_48del11. This premature translational stop signal has been observed in individual(s) with Rett syndrome (PMID: 15857422, 16155192, 17968969, 22213695, 23810759). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly16Glufs*22) 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). |
OMIM | RCV000170288 | SCV000032844 | pathogenic | Rett syndrome | 2006-06-01 | no assertion criteria provided | literature only | |
Rett |
RCV000170288 | SCV000222621 | pathogenic | Rett syndrome | 2013-12-05 | no assertion criteria provided | curation |