Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001507068 | SCV001712041 | uncertain significance | FOXG1 disorder | 2021-03-26 | reviewed by expert panel | curation | The p.His55_His57dup variant in FOXG1 has been reported as a de novo occurrence (biological parentage unconfirmed) in an individual with clinical features of FOXG1 disorder (internal database, GeneDx) (PM6). The p.His55_His57dup variant in FOXG1 is absent in gnomAD (PM2_supporting). The p.His55_His57dup variant is an in-frame deletion/duplication present in a repetitive region of FOXG1 (BP3). In summary, the p.His55_His57dup variant in FOXG1 is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM6, PM2_supporting, BP3). |
Gene |
RCV001587440 | SCV001826093 | uncertain significance | not provided | 2021-03-29 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In-frame insertion of 3 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge |
Labcorp Genetics |
RCV002564189 | SCV003195495 | uncertain significance | Rett syndrome, congenital variant | 2022-05-31 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1162244). This variant has not been reported in the literature in individuals affected with FOXG1-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.153_161dup, results in the insertion of 3 amino acid(s) of the FOXG1 protein (p.His55_His57dup), but otherwise preserves the integrity of the reading frame. |