ClinVar Miner

Submissions for variant NM_015662.3(IFT172):c.2548C>G (p.Pro850Ala)

gnomAD frequency: 0.00001  dbSNP: rs1401639649
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 RCV001872219 SCV002122959 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 2021-04-12 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 C0"). This variant has not been reported in the literature in individuals with IFT172-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with alanine at codon 850 of the IFT172 protein (p.Pro850Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine.
Fulgent Genetics, Fulgent Genetics RCV005014719 SCV005651402 uncertain significance Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 2024-02-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004552061 SCV004116420 uncertain significance IFT172-related disorder 2024-08-23 no assertion criteria provided clinical testing The IFT172 c.2548C>G variant is predicted to result in the amino acid substitution p.Pro850Ala. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0035% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.