ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.418C>T (p.Gln140Ter) (rs267608469)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698528 SCV000827196 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-12-13 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Gln128*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 359 amino acids of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Rett syndrome (PMID: 22476991, 16077736, 16473305). ClinVar contains an entry for this variant (Variation ID: 143553). A different truncation (p.Arg168*) that lies downstream of this variant has been determined to be pathogenic (PMID: 10577905, 23270700, 24511209, 11058114, 24283265). This suggests that deletion of this region of the MECP2 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
RettBASE RCV000133086 SCV000188075 pathogenic Rett syndrome 2012-09-27 no assertion criteria provided curation

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