Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003448329 | SCV004175931 | benign | FOXG1 disorder | 2023-10-13 | reviewed by expert panel | curation | The allele frequency of the p.Gly152Ala variant in FOXG1 is 0.008% in Latino sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The p.Gly152Ala variant is observed in at least 20 unaffected individuals (internal database - GeneDx; internal database - Invitae) (BS2).The p.Gly152Ala variant is found in at least 4 patients with an alternate molecular basis of disease (internal database - GeneDx; internal database - Invitae) (BP5_strong). Computational analysis prediction tools suggest that the p.Gly152Ala variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). In summary, the p.Gly152Ala variant in FOXG1 is classified as Benign based on the ACMG/AMP criteria (BS1, BS2, BP5_strong, BP4). |
Labcorp Genetics |
RCV000648317 | SCV000770131 | benign | Rett syndrome, congenital variant | 2023-11-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001557038 | SCV001778733 | likely benign | not provided | 2020-06-11 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816606 | SCV002070691 | uncertain significance | not specified | 2019-05-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004025747 | SCV004871876 | likely benign | Inborn genetic diseases | 2023-12-16 | 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. |