ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.191A>G (p.His64Arg)

dbSNP: rs61754433
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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 RCV002472326 SCV002769692 benign Rett syndrome 2022-10-11 reviewed by expert panel curation The allele frequency of the p.His52Arg variant in MECP2 (NM_004992.3) is 0.121% in the South Asian sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the p.His52Arg variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1).
Invitae RCV001520931 SCV001730147 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV001689675 SCV001915565 benign not provided 2020-02-17 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV002472326 SCV004101592 benign Rett syndrome 2023-10-12 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 benign. At least the following criteria are met: The allele frequency of this variant in at least one population in gnomAD is higher than the 0.03% threshold defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like Disorders VCEP 2.0 (BA1).
RettBASE RCV000133025 SCV000188012 uncertain significance not specified 2006-02-03 no assertion criteria provided curation

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