ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.143_149del (p.Lys48fs) (rs267608424)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000132849 SCV001362257 likely pathogenic Rett syndrome 2019-06-10 criteria provided, single submitter clinical testing Variant summary: MECP2 c.107_113delAAGAAGA (p.Lys36ArgfsX87) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 182010 control chromosomes (gnomAD). c.107_113delAAGAAGA has been reported in the literature in an individual affected with Rett Syndrome (Philippe_2006). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.
RettBASE RCV000132849 SCV000187828 pathogenic Rett syndrome 2008-01-21 no assertion criteria provided curation

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