ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.726A>C (p.Pro242=)

gnomAD frequency: 0.00003  dbSNP: rs61749740
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001499651 SCV001704418 likely benign Severe neonatal-onset encephalopathy with microcephaly 2022-09-10 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380480 SCV004098786 likely benign 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 Likely benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is between 0.008% and 0.03% (BS1). The variant is observed in at least 1 individual with no features of Rett Syndrome (BS2_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 RCV000133201 SCV000188199 benign not specified 2006-02-03 no assertion criteria provided curation

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