ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003455900 SCV004183330 benign Greig cephalopolysyndactyly syndrome 2023-12-12 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005047590 SCV005668775 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 2024-02-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005220717 SCV005869370 uncertain significance Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2024-09-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 803 of the GLI3 protein (p.Ala803Pro). This variant is present in population databases (rs779956431, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GLI3-related conditions. Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GLI3 protein function with a negative predictive value of 80%. 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.