ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe) (rs797044527)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521611 SCV000617544 pathogenic not provided 2017-07-25 criteria provided, single submitter clinical testing The S217F variant in the FOXL2 gene has previously been reported to segregate with disease in at least one family with blepharophimosis-ptosis-epicanthus inversus (De Baere et al., 2001). Adequate data is not available in large population cohorts to assess the frequency of this variant in publicly available databases; however, this variant has not been detected in presumably healthy individuals tested at GeneDx. The S217F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Based on currently available evidence, we interpret S217F as a pathogenic variant.
GeneReviews RCV000192032 SCV000207358 pathogenic Blepharophimosis, ptosis, and epicanthus inversus 2015-02-05 no assertion criteria provided literature only
Wessex Regional Genetics Laboratory,Salisbury District Hospital RCV000192032 SCV000924428 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus 2018-01-01 no assertion criteria provided clinical testing

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