ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.193A>G (p.Met65Val)

dbSNP: rs1559922621
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Wessex Regional Genetics Laboratory, Salisbury District Hospital RCV000785833 SCV000924406 likely pathogenic Blepharophimosis, ptosis, and epicanthus inversus syndrome 2011-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558589 SCV004293520 pathogenic not provided 2023-04-13 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Met65 amino acid residue in FOXL2. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 634958). This missense change has been observed in individual(s) with blepharophimosis, ptosis, and epicanthus inversus syndrome (PMID: 18642388, 31077882). In at least one individual the variant was observed to be de novo. This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 65 of the FOXL2 protein (p.Met65Val).

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