Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001507039 | SCV001711988 | benign | FOXG1 disorder | 2021-03-26 | reviewed by expert panel | curation | The allele frequency of the p.Gly168Ala variant in FOXG1 is 0.18% in African 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). Computational analysis prediction tools suggest that the p.Gly168Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly168Ala variant in FOXG1 is classified as benign based on the ACMG/AMP criteria (BA1, BP4). |
Gene |
RCV001704986 | SCV000241036 | benign | not provided | 2019-10-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000540363 | SCV000650052 | likely benign | Rett syndrome, congenital variant | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000187444 | SCV000709200 | likely benign | not specified | 2017-06-23 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317097 | SCV000850407 | benign | Inborn genetic diseases | 2019-04-25 | criteria provided, single submitter | clinical testing | This alteration is classified as 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 |
RCV001704986 | SCV004129156 | likely benign | not provided | 2022-11-01 | criteria provided, single submitter | clinical testing | FOXG1: PP2, BS1 |
Prevention |
RCV003947570 | SCV004760075 | likely benign | FOXG1-related condition | 2021-06-01 | 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). |