Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001507041 | SCV001711990 | benign | FOXG1 disorder | 2021-03-26 | reviewed by expert panel | curation | The allele frequency of the p.Q70_P77del variant in FOXG1 is 0.03% 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 p.Q70_P77del variant is observed in at least 2 unaffected individuals (internal database) (BS2). The p.Q70_P77del variant is an in-frame deletion present in a repetitive region of FOXG1 (BP3). The p.Q70_P77del variant is found in at least 3 patients with an alternate molecular basis of disease (internal database) (BP5_strong). In summary, the p.Q70_P77del variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BS2, BP3, BP5_strong). |
Eurofins Ntd Llc |
RCV000187434 | SCV000224473 | likely benign | not specified | 2015-05-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001704246 | SCV000241025 | benign | not provided | 2019-12-16 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000576291 | SCV000677041 | likely benign | Rett syndrome, congenital variant | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002316989 | SCV000850602 | likely benign | Inborn genetic diseases | 2018-08-28 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Prevention |
RCV003947461 | SCV004769868 | likely benign | FOXG1-related disorder | 2021-09-27 | no assertion criteria provided | 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). |