ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.331_333del (p.Thr111del)

dbSNP: rs267608449
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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 RCV000133052 SCV004232228 likely pathogenic Rett syndrome 2024-01-15 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). (RettBASE proband ID 4181 ) At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4). This variant is absent from gnomAD (PM2_Supporting). Protein length changes of < 3 amino acid residues due to in-frame deletions/insertions in a non-repeat region (PM4_Supporting).
RettBASE RCV000133052 SCV000188040 pathogenic Rett syndrome 2010-07-13 no assertion criteria provided curation

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