ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.756C>G (p.Thr252=)

dbSNP: rs61749746
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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 RCV003990998 SCV004808872 likely benign Rett syndrome 2024-03-22 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 likely benign. At least the following criteria are met: The variant is observed in at least 2 individuals with no features of Rett Syndrome (BS2). PMID 12707946 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 RCV000133210 SCV000188208 benign not specified 2006-04-21 no assertion criteria provided curation

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