ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.592A>T (p.Arg198Ter) (rs587783136)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144809 SCV000191041 pathogenic not provided 2014-06-09 criteria provided, single submitter clinical testing The R186X nonsense mutation in the MECP2 gene is predicted to cause loss of normal protein function through protein truncation, with loss of the last 301 amino acids of the protein. Other nonsense mutations in nearby residues (K180X; K192X) have been reported in association with Rett syndrome, supporting the functional importance of this region of the protein. The variant is found in INFANT-EPI panel(s).

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