Submissions for variant NM_001110792.2(MECP2):c.414-3C>T

gnomAD frequency: 0.00003  dbSNP: rs267608465

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV000625805	SCV002047367	benign	Rett syndrome	2022-02-18	reviewed by expert panel	curation	The c.378-3C>T variant in MECP2 (NM_004992.3) has an allele frequency of 0.038% in "Other" sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). The c.378-3C>T variant is observed in at least 2 unaffected individuals (Invitae internal database) (BS2). The c.378-3C>T variant is found in a patient with an alternate molecular basis of disease (Invitae internal database) (BP5). In summary, the c.378-3C>T variant in MECP2 is classified as benign for Rett Syndrome based on the ACMG/AMP criteria (BA1, BS2, BP5).
Genomic Research Center, Shahid Beheshti University of Medical Sciences	RCV000625805	SCV000746360	benign	Rett syndrome	2021-04-27	criteria provided, single submitter	clinical testing
Invitae	RCV001034244	SCV001197576	benign	Severe neonatal-onset encephalopathy with microcephaly	2023-12-19	criteria provided, single submitter	clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré	RCV001034244	SCV001432388	pathogenic	Severe neonatal-onset encephalopathy with microcephaly		no assertion criteria provided	clinical testing