ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter)

dbSNP: rs104893741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 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
GeneReviews RCV000192033 SCV000207359 not provided Blepharophimosis, ptosis, and epicanthus inversus syndrome no assertion provided literature only

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