Submissions for variant NM_001110792.2(MECP2):c.30delinsGA (p.Ser10fs)

dbSNP: rs786205040

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Centre for Population Genomics, CPG	RCV000170285	SCV004232235	uncertain significance	Rett syndrome	2024-01-16	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 3.0, this variant is classified as a variant of uncertain significance. At least the following criteria are met: At least the following criteria are met: This variant has been identified as a de novo occurrence in an individual This variant has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6). PMID: 16630165 At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4). PMID: 16630165 This variant is absent from gnomAD (PM2_Supporting).
OMIM	RCV000170285	SCV000032847	pathogenic	Rett syndrome	2006-04-01	no assertion criteria provided	literature only
RettBASE	RCV000170285	SCV000222617	pathogenic	Rett syndrome	2006-07-04	no assertion criteria provided	curation