Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000408786 | SCV000484878 | pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000523621 | SCV000617545 | pathogenic | not provided | 2019-12-13 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 18604817, 22312189, 30029625, 19515849, 15257268, 18484667, 27283035, 30234390) |
Centro Nacional de Genética Medica "Dr. |
RCV000523621 | SCV002098085 | likely pathogenic | not provided | 2022-02-02 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV003392224 | SCV004119824 | pathogenic | FOXL2-related condition | 2023-10-11 | criteria provided, single submitter | clinical testing | The FOXL2 c.644A>G variant is predicted to result in the amino acid substitution p.Tyr215Cys. This variant has been reported as segregating with disease in a five generation kindred with blepharophimosis-ptosis-epicanthus inversus syndrome (Kumar et al. 2004. PubMed ID: 15257268). This variant has also been reported in a sporadic case of BPES (Wang et al. 2022. PubMed ID: 36338666). A functional study using protein expression in cell culture found that the p.Tyr215Cys substitution causes protein aggregation (Dipietromaria et al. 2009. PubMed ID: 19515849). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Given all the evidence, we interpret this variant as pathogenic. |