Submissions for variant NM_001110792.2(MECP2):c.885C>G (p.Ala295=)

gnomAD frequency: 0.00042  dbSNP: rs61750253

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146346	SCV000193619	likely benign	not specified	2013-12-11	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000462569	SCV000556749	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-12-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312955	SCV000848939	benign	Inborn genetic diseases	2017-02-03	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.
GeneDx	RCV001705938	SCV001887292	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV003991005	SCV004808829	benign	Rett syndrome	2024-03-18	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 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 3.0 (BA1).
RettBASE	RCV000146346	SCV000188259	benign	not specified	2002-04-10	no assertion criteria provided	curation
PreventionGenetics, part of Exact Sciences	RCV004544319	SCV004770807	likely benign	MECP2-related disorder	2021-07-20	no assertion criteria provided	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).