ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.524_525del (p.Gly175fs)

dbSNP: rs267608488
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV000133140 SCV004809019 pathogenic Rett syndrome 2024-03-14 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 3.0, this variant is classified as pathogenic. At least the following criteria are met: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4). PMID 11930274 This variant is absent from gnomAD (PM2_Supporting).
OMIM RCV000133140 SCV000032848 pathogenic Rett syndrome 2002-02-01 no assertion criteria provided literature only
OMIM RCV000170111 SCV000032849 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2002-02-01 no assertion criteria provided literature only
RettBASE RCV000133140 SCV000188132 pathogenic Rett syndrome 2002-09-05 no assertion criteria provided curation
RettBASE RCV000170111 SCV000222434 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2002-09-05 no assertion criteria provided curation

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