ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.8821A>G (p.Thr2941Ala)

gnomAD frequency: 0.00019  dbSNP: rs151209952
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001929227 SCV002202944 uncertain significance not provided 2022-07-06 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 2939 of the FAT4 protein (p.Thr2939Ala). This variant is present in population databases (rs151209952, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with FAT4-related conditions. ClinVar contains an entry for this variant (Variation ID: 1426097). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FAT4 protein function. 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.
Baylor Genetics RCV003147705 SCV003835585 uncertain significance Van Maldergem syndrome 2 2022-05-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV003147706 SCV003835654 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2022-05-12 criteria provided, single submitter clinical testing

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.