Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000195208 | SCV002769693 | benign | Rett syndrome | 2022-10-11 | reviewed by expert panel | curation | The allele frequency of the p.Pro75Leu variant in MECP2 (NM_004992.3) is 0.038% in the Other 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.Pro75Leu variant in MECP2 is classified as Benign based on the ACMG/AMP criteria (BA1). |
Genetic Services Laboratory, |
RCV000195208 | SCV000247960 | uncertain significance | Rett syndrome | 2016-09-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001414793 | SCV001616936 | likely benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002515929 | SCV003546796 | uncertain significance | Inborn genetic diseases | 2021-02-19 | criteria provided, single submitter | clinical testing | The c.224C>T (p.P75L) alteration is located in exon 3 (coding exon 2) of the MECP2 gene. This alteration results from a C to T substitution at nucleotide position 224, causing the proline (P) at amino acid position 75 to be replaced by a leucine (L). The p.P75L alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Centre for Population Genomics, |
RCV000195208 | SCV004232219 | benign | Rett syndrome | 2024-01-15 | 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 3.0, 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 3.0 (BA1). |
Prevention |
RCV003927411 | SCV004744533 | likely benign | MECP2-related condition | 2023-05-03 | 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 |
RCV000133035 | SCV000188023 | uncertain significance | not specified | 2011-02-15 | no assertion criteria provided | curation |