ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1194_*3444del (p.Pro399fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467463 SCV000544625 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-04-06 criteria provided, single submitter clinical testing This variant is a gross deletion that includes the final ~100 amino acids of exon 4, and is confined to the 3'UTR of the MECP2 gene (c.1158_*3444del). While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated MECP2 protein. While this particular variant has not been reported in the literature, deletions in this region of the MECP2 protein are commonly observed in individuals with Rett syndrome (PMID: 14974082, 16473305, 19914908). For these reasons, this variant has been classified as Pathogenic.

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