ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.353G>T (p.Arg118Leu)

dbSNP: rs61754457
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843481 SCV002103062 likely pathogenic not provided 2021-06-14 criteria provided, single submitter clinical testing PM1, PM2, PM5, PP3
Centre for Population Genomics, CPG RCV000133068 SCV004232294 pathogenic Rett syndrome 2024-01-11 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 3.0, this variant is classified as pathogenic. At least the following criteria are met: This variant has been identified as a de novo occurrence in at least 2 individuals with Rett syndrome, without confirmation of paternity and maternity (PM6_Strong). (PMID: 15737703, 17089071). Has been observed in at least 5 individuals with phenotypes consistent with MECP2-related disease (PS4). (ClinVar 143535, PMID: 15737703, 16473305, 17089071, 26984561). Occurs in the well-characterized Methyl-DNA binding (MDB) functional domain of MECP2 (PM1). Computational prediction analysis tools suggests a deleterious impact (REVEL score>= 0.75) (PP3). This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000133068 SCV000188056 uncertain significance Rett syndrome 2006-04-24 no assertion criteria provided curation

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