Submissions for variant NM_001110792.2(MECP2):c.1020C>T (p.Leu340=)

gnomAD frequency: 0.00021  dbSNP: rs61751442

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000168697	SCV000230245	benign	not specified	2014-07-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000168697	SCV000248010	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000168697	SCV000513566	benign	not specified	2015-04-03	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.
Invitae	RCV000863441	SCV001004102	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381449	SCV002693202	benign	Inborn genetic diseases	2017-09-14	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
Centre for Population Genomics, CPG	RCV003380488	SCV004098792	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). The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2).
CeGaT Center for Human Genetics Tuebingen	RCV001705939	SCV004165057	likely benign	not provided	2023-10-01	criteria provided, single submitter	clinical testing	MECP2: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences	RCV003917432	SCV004732587	likely benign	MECP2-related condition	2021-09-09	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	RCV000168697	SCV000188313	benign	not specified	2013-12-05	no assertion criteria provided	curation
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705939	SCV001927961	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705939	SCV001969858	likely benign	not provided		no assertion criteria provided	clinical testing