ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del)

dbSNP: rs267608637
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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 RCV000133012 SCV004098733 likely pathogenic Rett syndrome 2023-08-14 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: Protein length changes due to stop-loss variant (PM4_Strong). This variant is absent from gnomAD (PM2_Supporting). This variant has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6_Supporting, RettBase internal database).
RettBASE RCV000133012 SCV000187999 pathogenic Rett syndrome 2002-04-05 no assertion criteria provided curation

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