Submissions for variant NM_001110792.2(MECP2):c.474C>T (p.Gly158=)

gnomAD frequency: 0.00001  dbSNP: rs61748386

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV001800454	SCV002047346	likely benign	Rett syndrome	2021-11-24	reviewed by expert panel	curation	The c.438C>T (p.Gly146=) variant in MECP2 (NM_004992.3) is absent from gnomAD (PM2_supporting). The p.Gly146= variant is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). The p.Gly146= variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5). The Rett and Angelman-like Disorders Variant Curation Expert Panel classified this variant as Likely Benign based on BS2_supporting and BP5.
Eurofins Ntd Llc (ga)	RCV000133110	SCV000202986	uncertain significance	not provided	2013-12-23	criteria provided, single submitter	clinical testing
Invitae	RCV000556419	SCV000645666	benign	Severe neonatal-onset encephalopathy with microcephaly	2023-10-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000133110	SCV001773348	likely benign	not provided	2021-04-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000133110	SCV004165066	uncertain significance	not provided	2022-11-01	criteria provided, single submitter	clinical testing	MECP2: PM2, BP5
PreventionGenetics, part of Exact Sciences	RCV003892114	SCV004712726	likely benign	MECP2-related condition	2023-05-11	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	RCV000133110	SCV000188101	not provided	not provided		no assertion provided	not provided