ClinVar Miner

Submissions for variant NM_001102564.3(IFT43):c.502C>T (p.Arg168Trp)

gnomAD frequency: 0.00002  dbSNP: rs1483926431
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 RCV001899303 SCV002136428 uncertain significance not provided 2022-02-09 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with IFT43-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 173 of the IFT43 protein (p.Arg173Trp).
Fulgent Genetics, Fulgent Genetics RCV002503439 SCV002785021 uncertain significance Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81 2024-03-06 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.