Submissions for variant NM_001110792.2(MECP2):c.246C>T (p.Ser82=)

gnomAD frequency: 0.00119  dbSNP: rs61754439

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000169926	SCV000170215	benign	not specified	2012-11-07	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago	RCV000169926	SCV000247958	benign	not specified	2016-10-12	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000169926	SCV000330973	benign	not specified	2015-07-22	criteria provided, single submitter	clinical testing
Invitae	RCV000477494	SCV000556748	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-29	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000717918	SCV000848779	benign	History of neurodevelopmental disorder	2017-01-17	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Fulgent Genetics, Fulgent Genetics	RCV002492475	SCV002796093	likely benign	Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome; Autism, susceptibility to, X-linked 3	2021-11-12	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV003389395	SCV004101595	benign	Rett syndrome	2023-10-12	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).
PreventionGenetics, part of Exact Sciences	RCV003945132	SCV004762116	likely benign	MECP2-related condition	2021-05-21	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	RCV000169926	SCV000188019	benign	not specified	2003-03-31	no assertion criteria provided	curation