ClinVar Miner

Submissions for variant NM_004992.3(MECP2):c.27-5778_1138del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805421 SCV000945377 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-09-28 criteria provided, single submitter clinical testing This variant is a deletion of the genomic region encompassing exon 3 and part of exon 4 (followed by a 1 bp insertion; c.27-5778_1138delinsA) of the MECP2 gene. While this is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. 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. This variant disrupts the C-terminus of the MECP2 protein. Another variant that disrupts this region (p.Tyr450Leufs*37) has been determined to be pathogenic (PMID: 19914908). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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