ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153296141)_(153303786_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004581927 SCV005067267 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2019-02-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with MECP2-related disease. This variant is not present in population databases (ExAC no frequency). This variant is a deletion of the genomic region encompassing exon 3 and part of exon 4 (c.27-4488_1167delinsGCAA) 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.

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