ClinVar Miner

Submissions for variant NC_000023.11:g.154030587_154034485del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001210386 SCV001381871 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-09-24 criteria provided, single submitter clinical testing This variant results in the deletion of exon 3 and part of exon 4 (c.27-1928_1241delinsAAGTGG) 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 has not been reported in the literature in individuals with MECP2-related conditions. This variant disrupts the C-terminus of the MECP2 protein. Another variant that disrupts this region (p.Pro389*) has been determined to be pathogenic (PMID: 17387578, 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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