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

dbSNP: rs61752381

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV000590905	SCV002540689	likely benign	Rett syndrome	2022-02-18	reviewed by expert panel	curation	The p.His371_His372del variant in MECP2 (NM_004992.3) is observed in 2 unaffected individuals (PMID: 29961512) (BS2). The p.His371_His372del variant is found in 2 patients with an alternate molecular basis of disease (PMID 29961512, GeneDx internal database) (BP5). In summary, the p.His371_His372del variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BS2, BP5).
GeneDx	RCV001704062	SCV000190971	likely benign	not provided	2018-07-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 29961512)
Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN)	RCV000590905	SCV000700177	benign	Rett syndrome		criteria provided, single submitter	clinical testing
Invitae	RCV003638631	SCV004472023	uncertain significance	Severe neonatal-onset encephalopathy with microcephaly	2022-12-14	criteria provided, single submitter	clinical testing	In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 156614). This variant has been observed in individual(s) with epilepsy and developmental delay (PMID: 29961512). This variant is present in population databases (rs587783093, gnomAD 0.01%). This variant, c.1101_1106del, results in the deletion of 2 amino acid(s) of the MECP2 protein (p.His371_His372del), but otherwise preserves the integrity of the reading frame.