ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp)

dbSNP: rs267608470
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003231161 SCV003930225 pathogenic not provided 2023-04-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 15737703, 26984561, 21831886, 12843318)
Centre for Population Genomics, CPG RCV000133089 SCV004232279 likely pathogenic Rett syndrome 2024-01-10 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 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 has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6). PMID: 15737703 Computational prediction analysis tools suggests a deleterious impact (REVEL score 0.91>= 0.75) (PP3). At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4). PMID: 15737703 This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000133089 SCV000188078 uncertain significance Rett syndrome 2008-02-18 no assertion criteria provided curation

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