Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Diagnostic Laboratory, |
RCV000192040 | SCV000484898 | pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2016-11-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000599160 | SCV000710655 | pathogenic | not provided | 2023-06-29 | criteria provided, single submitter | clinical testing | Reported previously, using alternate nomenclature of 1092-1108dup17 or c.844_860dup17, in multiple individuals from at least two families affected with blepharophimosis, ptosis, epicanthus inversus syndrome (Crisponi et al., 2001; Yang et al., 2017).; Frameshift variant predicted to result in protein truncation in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 28849110, 31048069, 31077882, 32454486, 20184535, 11776388, 12938087, 36338666, 11175783) |
Wessex Regional Genetics Laboratory, |
RCV000192040 | SCV000924443 | pathogenic | Blepharophimosis, ptosis, and epicanthus inversus syndrome | 2018-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000599160 | SCV003525289 | pathogenic | not provided | 2023-10-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.His291Argfs*71) in the FOXL2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 86 amino acid(s) of the FOXL2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the gnomAD database. This premature translational stop signal has been observed in individuals with blepharophimosis-ptosis-epicanthus inversus syndrome (PMID: 11175783, 28849110, 31048069). It has also been observed to segregate with disease in related individuals. This variant is also known as 1092_1108dup and c.844_860dup17. ClinVar contains an entry for this variant (Variation ID: 4866). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000005142 | SCV000025319 | pathogenic | BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | 2003-09-01 | no assertion criteria provided | literature only | |
Gene |
RCV000192040 | SCV000207367 | not provided | Blepharophimosis, ptosis, and epicanthus inversus syndrome | no assertion provided | literature only |