ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.1135_1142del (p.Pro379fs) (rs267608571)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV000851500 SCV000994555 pathogenic Intellectual disability 2017-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000494344 SCV000582686 pathogenic not provided 2018-07-26 criteria provided, single submitter clinical testing The c.1135_1142delCCCGTGCC pathogenic variant in the MECP2 gene has been reported previously in an individual with an MECP2-related disorder (Oexle et al., 2005). The deletion causes a frameshift starting with codon Proline 379 changes this amino acid to a Threonine residue, and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Pro379ThrfsX11. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 108 amino acids are replaced with 10 incorrect amino acids. The c.1135_1142delCCCGTGCC is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server).
RettBASE RCV000132867 SCV000187847 pathogenic Mental retardation, X-linked, syndromic 13 2005-11-18 no assertion criteria provided curation

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