Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000192033 | SCV000484880 | pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003555920 | SCV004293516 | pathogenic | not provided | 2023-03-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the FOXL2 protein in which other variant(s) (p.His311Tyr) have been determined to be pathogenic (PMID: 30029625). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 4853). This premature translational stop signal has been observed in individuals with blepharophimosis, ptosis, and epicanthus inversus syndrome (PMID: 11175783, 30198434). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln219*) in the FOXL2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 158 amino acid(s) of the FOXL2 protein. |
OMIM | RCV000005126 | SCV000025303 | pathogenic | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | 2001-02-01 | no assertion criteria provided | literature only | |
Gene |
RCV000192033 | SCV000207359 | not provided | Blepharophimosis, ptosis, and epicanthus inversus syndrome | no assertion provided | literature only |