ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.840del (p.Ala281fs) (rs1557136332)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659839 SCV000781710 likely pathogenic Rett syndrome 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000706646 SCV000835710 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-05-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the MECP2 gene (p.Ala281Profs*8). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 205 amino acids of the MECP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MECP2-related disease. A different truncation (p.Leu386Glnfs*4) that lies downstream of this variant has been determined to be pathogenic (PMID: 19914908, 17387578, 10814718, 19371229, 22525432). 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.

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