ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.338C>A (p.Pro113His)

dbSNP: rs61754453
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Population Genomics, CPG RCV000133057 SCV004101608 likely pathogenic Rett syndrome 2023-10-12 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 pathogenic. At least the following criteria are met: Occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2 (PM1). This variant is absent from gnomAD (PM2_Supporting). Another missense variant in the same codon has been classified as pathogenic for Rett syndrome by the ClinGen Rett and Angelman-like Disorders Expert Panel (PM5). Computational prediction analysis tools suggests a deleterious impact (REVEL score >=0.75) (PP3). Has been observed in at least 2 individuals with phenotypes consistent with MECP2-related disease (PS4_Supporting, PMID: 11283202, RettBASE internal database).
RettBASE RCV000133057 SCV000188045 pathogenic Rett syndrome 2006-02-03 no assertion criteria provided curation

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