Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001800447 | SCV002047340 | benign | Rett syndrome | 2021-12-13 | reviewed by expert panel | curation | The allele frequency of the p.Ala447Thr (NM_004992.3) variant in MECP2 is 0.02% in East Asian sub population in gnomAD, which is high enough to be classified as likely benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Ala447Thr variant is observed in at least 2 unaffected individuals (GeneDx internal database) (BS2). In summary, the p.Ala447Thr variant in MECP2 is classified as benign based on the ACMG/AMP criteria (BS1, BS2). |
Invitae | RCV001088957 | SCV000556730 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000678237 | SCV001815276 | likely benign | not provided | 2021-05-21 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23810759, 30564305) |
Ambry Genetics | RCV002381448 | SCV002692307 | likely benign | Inborn genetic diseases | 2018-03-06 | 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. |
Ce |
RCV000678237 | SCV004701566 | likely benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | MECP2: BP4, BS2 |
Prevention |
RCV003935228 | SCV004761074 | likely benign | MECP2-related condition | 2022-05-26 | 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 |
RCV000132993 | SCV000187979 | benign | not specified | 2013-12-05 | no assertion criteria provided | curation | |
Genomic Diagnostic Laboratory, |
RCV000678237 | SCV000804260 | uncertain significance | not provided | 2015-04-03 | no assertion criteria provided | clinical testing |