ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg)

dbSNP: rs1057516162
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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 RCV000408755 SCV000484872 uncertain significance Blepharophimosis, ptosis, and epicanthus inversus syndrome 2016-11-03 criteria provided, single submitter clinical testing
3billion RCV000408755 SCV002521284 uncertain significance Blepharophimosis, ptosis, and epicanthus inversus syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Same nucleotide change resulting in same amino acid change has been previously reported to be associated with FOXL2 related disorder (PMID: 22159675). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.

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