ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1440G>A (p.Arg480=)

gnomAD frequency: 0.00001  dbSNP: rs267608633
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Total submissions: 6
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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 RCV002260614 SCV002540706 likely benign Rett syndrome 2022-05-10 reviewed by expert panel curation The silent p.Arg468= variant in MECP2 (NM_004992) is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). The p.Arg468= variant is found in two patients with an alternate molecular basis of disease (INVITAE internal cases) (BP5). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary the p.Arg468= variant in MECP2 is classified as Likely Benign for Rett syndrome disorder based on the ACMG/AMP criteria (BP7, BP4, BP5).
GeneDx RCV000724588 SCV000170237 likely benign not provided 2021-09-23 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000724588 SCV000230278 uncertain significance not provided 2015-02-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001089287 SCV001018228 likely benign Severe neonatal-onset encephalopathy with microcephaly 2024-12-20 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV002260614 SCV004098736 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: 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 RCV000169925 SCV000187989 benign not specified 2006-02-03 no assertion criteria provided curation

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