ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.843_855dup (p.Ser286fs) (rs587783091)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144753 SCV000190967 pathogenic not provided 2014-09-08 criteria provided, single submitter clinical testing The c.819_820insCCGAAAGCCGGGG (aka c.807_819dup13) mutation in the MECP2 gene causes a frameshift starting with codon Serine 269, changes this amino acid to a Proline residue and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Ser269ProfsX61. This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in RETT-EPI panel(s).

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