ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153296108)_(153301856_?)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 RCV001997197 SCV002229689 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2021-07-16 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. Other variant(s) that disrupt this region have been determined to be pathogenic (PMID: 23696494, 10814718, 19914908, 16473305). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Similar partial deletions have been reported in individuals with Rett syndrome (PMID: 14974082). This variant results in the deletion of exon(s) 3 and part of exon 4 (c.27-3848_1171del) of the MECP2 gene. While this variant 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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