ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.569G>A (p.Arg190His) (rs1557136818)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Neuropsychiatry & Development Lab,Centre for Addiction and Mental Health RCV000662350 SCV000678262 likely pathogenic Rett syndrome criteria provided, single submitter research Variant inherited in family, segregates with childhood cognitive regression/intellectual disability with or without childhood onset schizophrenia. Cognitive regression reported after 5 years in a male affected, and after 9 years in females. Adult onset schizophrenia is also present in the family, without cognitive regression, but does not segregate with variant. It cannot be concluded with certainty that the schizophrenia is a result of this variant. This same variant has also recently been reported de novo in a 9 year old girl with a diagnosis of atypical Rett, with cognitive regression and regression of speech and fine motor function after 5 years (PMID: 29137252)

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