ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1134_1136CCA[1] (p.His383_His384del) (rs61752381)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000144757 SCV000190971 uncertain significance not specified 2015-05-06 criteria provided, single submitter clinical testing The c.1101_1106delCCACCA variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It results in the in-frame deletion of two Histidine amino acid residues at codon 371 and 372, denoted p.His371_372del. This deletion affects a poorly conserved region of the MECP2 protein and is not expected to result in protein truncation or nonsense-mediated mRNA decay. Other in-frame deletions in this region of the MECP2 gene have been reported in association with typical and atypical Rett syndrome. Therefore, based on the currently available information, is is unclear whether c.1101_1106delCCACCA is a pathogenic variant or a rare benign variant.
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) RCV000590905 SCV000700177 benign Rett syndrome criteria provided, single submitter clinical testing

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