Submissions for variant NM_001110792.2(MECP2):c.609C>T (p.Pro203=)

dbSNP: rs61749710

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Population Genomics, CPG	RCV003380476	SCV004098808	likely 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 likely benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is between 0.008% and 0.03% (BS1). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7).
Labcorp Genetics (formerly Invitae), Labcorp	RCV005089658	SCV005793284	likely benign	Severe neonatal-onset encephalopathy with microcephaly	2024-05-22	criteria provided, single submitter	clinical testing
RettBASE	RCV000133165	SCV000188157	benign	not specified	2007-12-03	no assertion criteria provided	curation
PreventionGenetics, part of Exact Sciences	RCV004724832	SCV005337322	likely benign	MECP2-related disorder	2024-05-08	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).