Submissions for variant NM_001110792.2(MECP2):c.1473G>A (p.Thr491=)

gnomAD frequency: 0.00008  dbSNP: rs587781033

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001719898	SCV000170238	likely benign	not provided	2019-05-30	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23262346)
Eurofins Ntd Llc (ga)	RCV000153484	SCV000203000	benign	not specified	2014-01-22	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000153484	SCV000247953	benign	not specified	2017-06-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002316389	SCV000851382	likely benign	Inborn genetic diseases	2016-12-12	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Invitae	RCV000869611	SCV001011051	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-01-25	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965053	SCV004785692	likely benign	MECP2-related condition	2021-06-28	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	RCV000153484	SCV000222405	benign	not specified	2013-06-12	no assertion criteria provided	curation