ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs) (rs267608592)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486453 SCV000567055 pathogenic not provided 2015-07-21 criteria provided, single submitter clinical testing The c.1160_1200del41 deletion in the MECP2 gene has not been reported previously as a pathogenic variant nor as a benign polymorphism, to our knowledge. The c.1160_1200del41 deletion causes aframeshift starting with codon Proline 387 changes this amino acid to a Glutamine residue, and creates apremature Stop codon at position 4 of the new reading frame, denoted p.Pro387GlnfsX4. This frameshiftvariant replaces the typical last 100 amino acid residues in the MECP2 encoded protein with 4 differentamino acid residues; this change is expected to result in a truncated protein with an altered structure andfunction. Protein truncating variants downstream of this deletion have been reported in the HumanGene Mutation Database in association with MECP2-related disorders (Stenson et al., 2014), supportingthe pathogenicity of more upstream truncating variants. The c.1160_1200del41 deletion was notobserved in approximately 6500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1160_1200del41 as a pathogenic variant.
RettBASE RCV000132913 SCV000187894 pathogenic Rett syndrome 2004-06-17 no assertion criteria provided curation

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