ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.413+18C>G

gnomAD frequency: 0.00002  dbSNP: rs267608461
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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 RCV001800458 SCV002047350 likely benign Rett syndrome 2021-12-22 reviewed by expert panel curation The allele frequency of the c.377+18C>G variant (NM_004992.3) in MECP2 is 0.01% in Latino sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). Splice prediction analysis, using multiple computational tools does not suggest an impact to splicing (BP4). In summary, the c.377+18C>G variant in MECP2 is classified as likely benign based on the ACMG/AMP criteria (BS1, BP4).
GeneDx RCV000605977 SCV000728700 likely benign not specified 2017-10-25 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002514774 SCV003453006 benign Severe neonatal-onset encephalopathy with microcephaly 2023-06-09 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV001800458 SCV004098778 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). 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 RCV000144098 SCV000189174 not provided not provided flagged submission not provided
RettBASE RCV000170267 SCV000222599 uncertain significance Autism, susceptibility to, X-linked 3 2007-11-01 no assertion criteria provided curation

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