ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1033_1037del (p.Gly345fs) (rs1569548376)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699118 SCV000827815 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2018-03-12 criteria provided, single submitter clinical testing This sequence change is a complex rearrangement that results in a deletion and an insertion at codon 333. Although the exact nature of the event is unknown, it is likely to disrupt the last 166 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. Many different deletions variants in this region of the MECP2 gene have been reported in affected individuals (PMID: 19914908, 16473305). 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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