Submissions for variant NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr)

dbSNP: rs61753973

Total submissions: 14

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000146352	SCV000193628	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000471943	SCV000513574	benign	not provided	2019-03-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12566531, 10767337, 12872250, 12384770, 16763963)
Invitae	RCV001089023	SCV000556733	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000146352	SCV000708129	likely benign	not specified	2017-05-08	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312624	SCV000846373	benign	Inborn genetic diseases	2018-05-31	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.
CeGaT Center for Human Genetics Tuebingen	RCV000471943	SCV001150510	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	MECP2: BP4, BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000146352	SCV001157690	likely benign	not specified	2019-01-23	criteria provided, single submitter	clinical testing
Centre for Population Genomics, CPG	RCV003380467	SCV004098740	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).
PreventionGenetics, part of Exact Sciences	RCV003952688	SCV004770033	likely benign	MECP2-related condition	2021-06-30	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	RCV000132986	SCV000187970	likely benign	X-linked intellectual disability-psychosis-macroorchidism syndrome	2016-04-26	no assertion criteria provided	research
RettBASE	RCV000170236	SCV000222566	likely benign	Attention deficit hyperactivity disorder	2016-04-26	no assertion criteria provided	research
RettBASE	RCV000170237	SCV000222567	likely benign	Autism, susceptibility to, X-linked 3	2016-04-26	no assertion criteria provided	research
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000471943	SCV001927574	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000471943	SCV001970455	likely benign	not provided		no assertion criteria provided	clinical testing