ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1122del (p.Lys375fs) (rs587783092)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144755 SCV000190969 pathogenic not provided 2013-05-23 criteria provided, single submitter clinical testing The c.1086delC mutation in the MECP2 gene causes a frameshift starting with codon Lysine 363, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 46 of the new reading frame, denoted p.Lys363ArgfsX46. This mutation is predicted to replace the last 124 amino acids with 45 incorrect amino acids. The variant is found in MECP2 panel(s).

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