Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001800455 | SCV002047347 | likely benign | Rett syndrome | 2021-10-28 | reviewed by expert panel | curation | The c.528C>G (p.Pro176=) variant in MECP2 (NM_004992.3) is observed in at least 2 unaffected individuals (internal database - Invitae) (BS2). The silent p.Pro176= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). The p.Pro176= variant in MECP2 is present in gnomAD v2.1.1 at a frequency of 0.003275% (no criteria met). In summary, the p.Pro176= variant in MECP2 is classified as Likely Benign based on the ACMG/AMP criteria (BS2, BP4, BP7). |
Eurofins Ntd Llc |
RCV000133152 | SCV000202985 | uncertain significance | not provided | 2013-12-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001520964 | SCV001730190 | benign | Severe neonatal-onset encephalopathy with microcephaly | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002345448 | SCV002642062 | likely benign | Inborn genetic diseases | 2018-09-09 | 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. |
Prevention |
RCV003945158 | SCV004763023 | likely benign | MECP2-related condition | 2023-01-11 | 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 |
RCV000133152 | SCV000188144 | not provided | not provided | no assertion provided | not provided |