ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.261G>A (p.Pro87=)

gnomAD frequency: 0.00003  dbSNP: rs61754442
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV001800451 SCV002047352 likely benign Rett syndrome 2021-10-26 reviewed by expert panel curation The c.225G>A (p.Pro75=) variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (internal database - GeneDx) (BS2). The c.225G>A (p.Pro75=) variant is found in a patient with an alternate molecular basis of disease (internal database - Invitae) (BP5). In summary, the c.225G>A (p.Pro75=) variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2, BP5).
GeneDx RCV000133036 SCV000515609 likely benign not specified 2016-12-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000645113 SCV000766855 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-24 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV001800451 SCV004808760 likely benign Rett syndrome 2024-03-15 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 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). 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 RCV000133036 SCV000188024 benign not specified 2007-12-03 no assertion criteria provided curation

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