Submissions for variant NM_001110792.2(MECP2):c.1032C>T (p.Ser344=)

gnomAD frequency: 0.00012  dbSNP: rs148744894

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000133310	SCV000248011	likely benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000418955	SCV000510635	benign	not provided	2017-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000418955	SCV000728719	likely benign	not provided	2021-01-26	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 20479760, 21940684, 26984561)
Ambry Genetics	RCV002312956	SCV000849129	benign	Inborn genetic diseases	2017-02-24	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001086747	SCV001003215	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-14	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV003380490	SCV004098761	benign	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 benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7).
PreventionGenetics, part of Exact Sciences	RCV004544320	SCV004771511	likely benign	MECP2-related disorder	2019-07-29	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
RettBASE	RCV000133310	SCV000188319	benign	not specified	2012-05-18	no assertion criteria provided	curation