ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)

dbSNP: rs267608438
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000133031 SCV000537181 pathogenic Rett syndrome 2015-07-10 criteria provided, single submitter clinical testing
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814066 SCV001755243 pathogenic Abnormality of the nervous system 2021-07-10 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV000133031 SCV004101594 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: Predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000133031 SCV000188018 pathogenic Rett syndrome 2008-02-18 no assertion criteria provided curation

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