ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1121_1222delinsAAGAAGGAGCACCACCACCATCACCACCACTCAGAGTCCCCAAAGGCCCCCGTGCCACTGCTCCCACCCCTGC (p.Pro374fs) (rs1557135516)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144756 SCV000190970 pathogenic not provided 2013-07-31 criteria provided, single submitter clinical testing The c.1085_1188del104ins75 mutation in the MECP2 gene causes a frameshift starting with codon Proline 362, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 33 of the new reading frame, denoted p.Pro362GlnfsX33. This mutation is predicted to cause loss of normal protein function through protein truncation. The variant is found in EPILEPSY panel(s).

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