ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1216_1251del (p.Glu406_Pro417del) (rs782746707)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children RCV000445565 SCV000537191 uncertain significance not specified 2015-07-15 criteria provided, single submitter clinical testing
GeneDx RCV000766764 SCV000582995 uncertain significance not provided 2017-11-28 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the MECP2 gene. The c.1180_1215del36 variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1180_1215del36 variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.1180_1215del36 variant results in an in-frame deletion of 12 amino acid residues, denoted p.Glu394_Pro405del. However, the c.1180_1215del36 variant alters residues that are not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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