ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.48_55dup (p.Glu19fs)

dbSNP: rs786205043
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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 RCV000170290 SCV004232203 uncertain significance 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 a variant of uncertain significance. At least the following criteria are met: This variant has been identified as a de novo occurrence in an individual with Rett syndrome without confirmation of paternity and maternity (PM6). PMID 16829352 This variant is absent from gnomAD (PM2_Supporting). At least one individual with this variant has been reported with a clinical phenotype consistent with Rett syndrome (PP4).
RettBASE RCV000170290 SCV000222623 pathogenic Rett syndrome 2007-11-01 no assertion criteria provided curation

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