ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2119C>T (p.Leu707Phe)

gnomAD frequency: 0.00004  dbSNP: rs141172132
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001207040 SCV001378377 uncertain significance Saldino-Mainzer syndrome 2022-11-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with IFT140-related conditions. 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. 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 IFT140 protein function. ClinVar contains an entry for this variant (Variation ID: 937916). This variant is present in population databases (rs141172132, gnomAD 0.03%). This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 707 of the IFT140 protein (p.Leu707Phe).
Fulgent Genetics, Fulgent Genetics RCV002484120 SCV002790248 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-12-15 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.