Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV003448303 | SCV004175929 | likely benign | FOXG1 disorder | 2023-10-13 | reviewed by expert panel | curation | The p.Ala92Val variant in FOXG1 is observed in at least 1 unaffected individual (internal database - Invitae) (BS2_supporting). The p.Ala92Val variant is found in at least 2 patients with an alternate molecular basis of disease (internal database - Invitae) (BP5). Computational analysis prediction tools suggest that the p.Ala92Val variant does not have a deleterious impact; however this information does not predict clinical significance on its own (BP4). The p.Ala92Val variant in FOXG1 is absent from gnomAD (PM2_supporting). In the absence of other pathogenic evidence beyond PM2_Supporting, and because this variant has been observed in 1 unaffected individual and 2 individuals with an alternate molecular diagnosis, the ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel has agreed to overrule the PM2_Supporting criterion and classified this variant as Likely Benign (BS2_supporting, BP4, BP5). |
Center for Pediatric Genomic Medicine, |
RCV000429748 | SCV000511406 | uncertain significance | not provided | 2016-09-28 | criteria provided, single submitter | clinical testing | Converted during submission to Uncertain significance. |
Labcorp Genetics |
RCV000685886 | SCV000813386 | benign | Rett syndrome, congenital variant | 2022-10-03 | criteria provided, single submitter | clinical testing |