Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001800453 | SCV002047356 | benign | Rett syndrome | 2021-10-26 | reviewed by expert panel | curation | The allele frequency of the c.393C>G (p.Ala131=) variant in MECP2 (NM_004992.3) is 0.1698% in the Ashkenazi Jewish 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). The silent c.393C>G (p.Ala131=) variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.393C>G (p.Ala131=) variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1, BP4, BP7). |
Genetic Services Laboratory, |
RCV000133090 | SCV000247966 | likely benign | not specified | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000415752 | SCV000493381 | uncertain significance | not provided | 2016-08-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000415752 | SCV000513558 | likely benign | not provided | 2019-08-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000721058 | SCV000851943 | likely benign | History of neurodevelopmental disorder | 2013-08-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Invitae | RCV001518782 | SCV001727541 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2022-10-31 | criteria provided, single submitter | clinical testing | |
Centre for Population Genomics, |
RCV001800453 | SCV004098793 | 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). |
Prevention |
RCV004544313 | SCV004763351 | likely benign | MECP2-related disorder | 2021-05-19 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Rett |
RCV000133090 | SCV000188079 | benign | not specified | 2010-03-10 | no assertion criteria provided | curation |