ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153295063)_(153296130_?)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 RCV001949660 SCV002244765 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2021-02-23 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 (p.Leu386Hisfs*5) have been determined to be pathogenic (PMID: 11913567, 17387578, 11746022, 12325033). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with clinical features of MECP2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. This variant is a complex rearrangement of the MECP2 gene that minimally disrupts part of the sequence of exon 4. There is also some indication that the surrounding sequence could be disrupted, but the exact nature of this event is unknown.

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