ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1326dup (p.Lys443fs) (rs587783095)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144761 SCV000190977 pathogenic not provided 2012-08-23 criteria provided, single submitter clinical testing The c.1290dupC mutation in the MECP2 gene causes a frameshift starting with codon Lysine 431, changes this amino acid to a Glutamine residue and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Lys431GlnfsX5. This mutation is predicted to result in protein truncation. Although this mutation has not been previously reported to our knowledge, other mutations resulting in premature truncation of the C-terminal region of the protein have been identified in males with intellectual disability, absent speech, seizures, spasticity, ataxia, and hypotonia (Meloni et al., 2000; Kleefstra et al., 2002). The variant is found in CHILD-EPI panel(s).

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