ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.204C>T (p.Pro68=)

gnomAD frequency: 0.00010  dbSNP: rs61754435
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Total submissions: 8
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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 RCV001800449 SCV002047372 benign Rett syndrome 2021-12-13 reviewed by expert panel curation The allele frequency of the p.Pro56= (NM_004992.3) variant in MECP2 is 0.231% in 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.Pro56= variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BA1).
GeneDx RCV000133027 SCV000513556 benign not specified 2015-03-24 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000133027 SCV000604147 benign not specified 2016-09-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088114 SCV000645662 benign Severe neonatal-onset encephalopathy with microcephaly 2024-12-17 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000544803 SCV001150520 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing MECP2: BP4, BP7
Ambry Genetics RCV002399509 SCV002710860 benign Inborn genetic diseases 2017-09-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Centre for Population Genomics, CPG RCV001800449 SCV004098789 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).
RettBASE RCV000133027 SCV000188014 benign not specified 2006-02-03 no assertion criteria provided curation

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