Submissions for variant NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter)

dbSNP: rs61749739

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000193948	SCV000247985	pathogenic	Rett syndrome	2013-02-08	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV000193948	SCV004808765	pathogenic	Rett syndrome	2024-03-15	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 3.0, this variant is classified as 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 has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6). PMID 31178897. This variant is absent from gnomAD (PM2_Supporting).
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital	RCV000193948	SCV005420670	likely pathogenic	Rett syndrome	2024-10-04	criteria provided, single submitter	research	PVS1,PM2
RettBASE	RCV000133199	SCV000188197	pathogenic	not provided	2011-02-15	no assertion criteria provided	curation
Biochemistry Laboratory of CDMU, Chengde Medical University	RCV000193948	SCV000899198	pathogenic	Rett syndrome		no assertion criteria provided	case-control