ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1173del (p.Val392fs) (rs1557135793)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000645108 SCV000766850 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2017-11-15 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Val380Cysfs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 107 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 in this region of the MECP2 gene have been reported in affected individuals (PMID: 19914908, 16473305, Invitae) and therefore has been defined as a "deletion prone region" (PMID: 21878110, 14974082). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, University of Leipzig Medical Center RCV001252979 SCV001428466 likely pathogenic Mental retardation, X-linked, syndromic 13 2019-04-15 criteria provided, single submitter clinical testing This variant was identified as hemizygous

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