ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)

dbSNP: rs1557135315
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Génétique des Maladies du Développement, Hospices Civils de Lyon RCV000760272 SCV000890110 pathogenic Severe neonatal-onset encephalopathy with microcephaly; Syndromic X-linked intellectual disability Lubs type; X-linked intellectual disability-psychosis-macroorchidism syndrome; Rett syndrome 2017-07-03 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV000170131 SCV004232290 pathogenic Rett syndrome 2024-01-11 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: This variant is absent from gnomAD (PM2_Supporting). Has been observed in in at least 2 individuals with phenotypes consistent with MECP2-related disease (PS4_Supporting).( ClinVar Variation ID: 189648, PMID 10745042‚ 23262346, 12075485). Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1).
RettBASE RCV000170131 SCV000222459 pathogenic Rett syndrome 2013-06-12 no assertion criteria provided curation

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