ClinVar Miner

Submissions for variant NM_023067.4(FOXL2):c.560G>A (p.Gly187Asp)

gnomAD frequency: 0.00001  dbSNP: rs121908359
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000005147 SCV001368805 likely pathogenic Premature ovarian failure 3 2019-07-10 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS3,PP2,PP3,PP5.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002251877 SCV002523668 uncertain significance See cases 2020-04-17 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 support, PS4 support, PM2, PP2
Labcorp Genetics (formerly Invitae), Labcorp RCV003546451 SCV004267814 uncertain significance not provided 2023-12-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 187 of the FOXL2 protein (p.Gly187Asp). This variant is present in population databases (rs121908359, gnomAD 0.007%). This missense change has been observed in individual(s) with primary ovarian insufficiency without blepharophimosis and/or sex reversal (PMID: 12161610, 19429596). ClinVar contains an entry for this variant (Variation ID: 4871). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000192031 SCV004807553 likely benign Blepharophimosis, ptosis, and epicanthus inversus syndrome 2024-03-29 criteria provided, single submitter clinical testing
OMIM RCV000005147 SCV000025324 pathogenic Premature ovarian failure 3 2009-07-01 no assertion criteria provided literature only
GeneReviews RCV000192031 SCV000207357 not provided Blepharophimosis, ptosis, and epicanthus inversus syndrome no assertion provided literature only

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