Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000144753 | SCV000190967 | pathogenic | not provided | 2014-09-08 | criteria provided, single submitter | clinical testing | The c.819_820insCCGAAAGCCGGGG (aka c.807_819dup13) mutation in the MECP2 gene causes a frameshift starting with codon Serine 269, changes this amino acid to a Proline residue and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Ser269ProfsX61. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in RETT-EPI panel(s). |