Submissions for variant NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)

dbSNP: rs267608520

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194193	SCV000247991	pathogenic	Rett syndrome	2013-02-08	criteria provided, single submitter	clinical testing
Molecular Diagnostics Lab, Nemours Children's Health, Delaware	RCV000194193	SCV000537197	pathogenic	Rett syndrome	2015-07-17	criteria provided, single submitter	clinical testing	Loss of developmental milestones including verbal language; Non-purposeful eye and hand movements including hand wringing and slapping
Centre for Population Genomics, CPG	RCV000194193	SCV004098821	likely pathogenic	Rett syndrome	2023-08-14	criteria provided, single submitter	curation	This variant has been collected from RettBASE and curated to current modified ACMG/AMP criteria.Based on the classification scheme defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders Specifications to the ACMG/AMP Variant Interpretation Guidelines VCEP 2.0, this variant is classified as likely pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD (PM2_Supporting).
RettBASE	RCV000133215	SCV000188214	pathogenic	not provided	2011-02-15	no assertion criteria provided	curation