ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1198_1227del (p.Pro400_Glu409del)

dbSNP: rs63749034
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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 RCV000132923 SCV004232287 uncertain significance Rett syndrome 2024-01-10 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 is absent from gnomAD (PM2_Supporting). Has been observed in in at least 2 individuals with phenotypes consistent with MECP2-related disease (PS4_Supporting). (PMID 15173251‚ 16473305)
RettBASE RCV000132923 SCV000187904 uncertain significance Rett syndrome 2008-01-21 no assertion criteria provided curation

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