ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.82C>T (p.Gln28Ter)

dbSNP: rs61754424
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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 RCV003389406 SCV004101584 pathogenic Rett syndrome 2023-10-11 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 2.0, 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). This variant is absent from gnomAD (PM2_Supporting). Has been observed in at least 2 individuals with phenotypes consistent with MECP2-related disease (PS4_Supporting, Rettbase internal database).
RettBASE RCV000133124 SCV000188116 pathogenic not provided 2003-03-31 no assertion criteria provided curation

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