ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.140_143AGAA[1] (p.Glu49fs) (rs267608426)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473677 SCV000544620 pathogenic Angelman syndrome; Mental retardation, X-linked, syndromic 13; Rett syndrome 2016-05-01 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 3 of the MECP2 mRNA (c.108_111delAGAA), causing a frameshift at codon 37. This creates a premature translational stop signal in the last exon of the MECP2 mRNA (p.Glu37Argfs*87). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated MECP2 protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MECP2-related disease. The region of the protein disrupted by this variant includes the entire methyl-CpG DNA binding domain of MECP2 (PMID: 10508514). Many pathogenic truncations have been reported downstream of this variant (PMID: 16473305). For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000132853 SCV000187832 pathogenic Rett syndrome 2004-07-28 no assertion criteria provided curation

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