Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599338 | SCV000710060 | pathogenic | not provided | 2017-07-12 | criteria provided, single submitter | clinical testing | The c.1009_1294del286ins41 variant in the MECP2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. However, a different frameshift variant (c.1009_1016delAAGACCTG, denoted as c.1009_1016del8 due to alternative nomenclature) resulting in the same protein change has been reported previously in an individual with Rett syndrome (Bebbington et al., 2010). The c.1009_1294del286ins41 variant causes a frameshift, changing codon Lysine 337 to a premature Stop codon, denoted p.Lys337Ter. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1009_1294del286ins41 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.1009_1294del286ins41 as a pathogenic variant. |