ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter) (rs267608597)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598706 SCV000709924 pathogenic not provided 2018-02-08 criteria provided, single submitter clinical testing The c.1162_1163delCCinsTA variant in the MECP2 gene has been reported previously in a female with borderline intellectual disability without other features of Rett syndrome (Lesca et al., 2007). The c.1162_1163delCCinsTA variant results in the replacement of the normal codon, Proline 388, with a Stop codon, denoted p.Pro388Ter. This variant is predicted to cause loss of normal protein function through protein truncation. The c.1162_1163delCCinsTA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.1162_1163delCCinsTA as a pathogenic variant.
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV000851513 SCV000994568 pathogenic Intellectual disability 2018-04-17 criteria provided, single submitter clinical testing
RettBASE RCV000132921 SCV000187902 pathogenic Mental retardation, X-linked, syndromic 13 2007-11-01 no assertion criteria provided curation

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