ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.48_55del (p.Glu18fs)

dbSNP: rs786205043
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000170289 SCV002061399 pathogenic Rett syndrome 2021-06-15 criteria provided, single submitter clinical testing PVS1, PS2, PM2
Centre for Population Genomics, CPG RCV000170289 SCV004098828 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 pathogenic. At least the following criteria are met: This variant is predicted to result in loss of function, and LOF is a known mechanism of disease (PVS1). This variant has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6, PMID: 23810759). This variant is absent from gnomAD (PM2_Supporting).
RettBASE RCV000170289 SCV000222622 pathogenic Rett syndrome 2013-12-05 no assertion criteria provided curation

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