ClinVar Miner

Submissions for variant NC_000023.11:g.154030668_154039637del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001233088 SCV001405668 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-10-31 criteria provided, single submitter clinical testing This variant results in the deletion of exon 4 and part of exon 3 of the MECP2 gene (c.27-7080_1160delins59). 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. Other variant(s) that disrupt this region (p.Leu386Argfs*8) have been determined to be pathogenic (PMID:19914908, 21160487, 11746022, 12075485, Invitae). 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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