ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly)

dbSNP: rs1057516157
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Total submissions: 2
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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 RCV000408897 SCV000484863 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2016-11-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090642 SCV005756460 likely pathogenic not provided 2024-07-24 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 107 of the FOXL2 protein (p.Ser107Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with blepharophimosis, ptosis, and epicanthus inversus syndrome (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 369906). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant disrupts the p.Ser107 amino acid residue in FOXL2. Other variant(s) that disrupt this residue have been observed in individuals with FOXL2-related conditions (PMID: 33796131), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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