ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.1216C>T (p.Gln406Ter) (rs61753965)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000132967 SCV000190999 pathogenic not provided 2018-08-02 criteria provided, single submitter clinical testing The Q406X nonsense mutation in the MECP2 gene has been reported previously in two affected males with developmental delay, absence of language, severe intellectual disability, progressive spasticity, and seizures; however, the mutation was inherited from obligate carrier females who had normal to borderline intelligence and normal X-inactivation studies (Meloni et al., 2000). Q406X was also reported as a de novo mutation in a female with developmental delay, behavior problems, moderate intellectual disability, unsteady gait, and 100% skewed X-inactivation (Kleefstra et al., 2004), and in an individual with epilepsy who was non-ambulatory (Kim et al., 2012). The Q406X mutation is predicted to cause loss of normal protein function through protein truncation, as 81 amino acids are lost. The variant is found in INFANT-EPI panel(s).
RettBASE RCV000169933 SCV000187951 pathogenic Rett syndrome 2012-09-27 no assertion criteria provided curation
RettBASE RCV000170106 SCV000222427 pathogenic Mental retardation, X-linked, syndromic 13 2012-09-27 no assertion criteria provided curation

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