Submissions for variant NM_001110792.2(MECP2):c.731G>C (p.Gly244Ala)

gnomAD frequency: 0.00010  dbSNP: rs61748422

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547951	SCV000645674	benign	Severe neonatal-onset encephalopathy with microcephaly	2024-02-01	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000133202	SCV000707980	benign	not specified	2017-05-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001689676	SCV001913960	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30564305)
Centre for Population Genomics, CPG	RCV003380481	SCV004098727	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).
RettBASE	RCV000133202	SCV000188200	benign	not specified	2010-03-10	no assertion criteria provided	curation
PreventionGenetics, part of Exact Sciences	RCV004544316	SCV004780162	likely benign	MECP2-related disorder	2022-05-25	no assertion criteria provided	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).