ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.41_57dup (p.Arg20fs) (rs1557150846)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464233 SCV000544616 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-08-23 criteria provided, single submitter clinical testing This sequence change inserts 17 nucleotides in exon 1 of the MECP2 mRNA (NM_001110792.1:c.41_57dup), causing a frameshift at codon 20. This creates a premature translational stop signal (p.Arg20Glufs*30) and is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with Rett syndrome (PMID: 27171548). Loss-of-function variants in MECP2 are known to be pathogenic (PMID: 12180070). For these reasons, this variant has been classified as Pathogenic.

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