ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.879C>T (p.Ala293=)

gnomAD frequency: 0.00050  dbSNP: rs61750252
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000168695 SCV000170225 benign not specified 2013-09-19 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.
Eurofins Ntd Llc (ga) RCV000168695 SCV000230272 benign not specified 2014-12-02 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000168695 SCV000247999 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001080832 SCV000556744 benign Severe neonatal-onset encephalopathy with microcephaly 2024-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312905 SCV000848253 benign Inborn genetic diseases 2016-11-16 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc RCV000469217 SCV001144493 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
Centre for Population Genomics, CPG RCV003380419 SCV004098767 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 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). 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).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000469217 SCV004220018 benign not provided 2018-09-18 criteria provided, single submitter clinical testing
RettBASE RCV000168695 SCV000188258 benign not specified 2013-12-05 no assertion criteria provided curation

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