ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.663G>A (p.Val221=)

dbSNP: rs786205017
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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 RCV003380501 SCV004098814 uncertain significance 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 Uncertain significance . At least the following criteria are met: This variant is absent from gnomAD (PM2_Supporting). Synonymous or intronic variant outside donor and acceptor splice regions where splicing prediction algorithms do not support significant splicing alteration (spliceAI score <=0.1) (BP4, BP7).
RettBASE RCV000170097 SCV000222417 benign not specified 2011-03-29 no assertion criteria provided curation

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