ClinVar Miner


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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694390 SCV000822834 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-06-02 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement involving a translocation of a piece of the Y chromosome in the last coding exon of MECP2. It does not change the copy number of any exons. The event deletes approximately 36 nucleotides and inserts an approximately 150kb region. This sequence change results in a premature translational stop signal in the MECP2 gene (p.Pro385Glnfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt 7 amino acids and delete the last 95 amino acids of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MECP2-related disease. Many different deletions variants, including p.Leu386Hisfs*5, that lie downstream of this variant have been determined to be pathogenic (PMID: 11913567, 17387578, 10767337, 11746022, 12325033, 21878110). This suggests that deletion of this region of the MECP2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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