ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3490G>A (p.Val1164Met)

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 RCV002886634 SCV003254455 uncertain significance Cranioectodermal dysplasia 1 2022-06-23 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1215 of the IFT122 protein (p.Val1215Met). This variant is present in population databases (rs139940512, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Revvity Omics, Revvity RCV002886634 SCV003813243 uncertain significance Cranioectodermal dysplasia 1 2021-05-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004066184 SCV004885922 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.3643G>A (p.V1215M) alteration is located in exon 30 (coding exon 30) of the IFT122 gene. This alteration results from a G to A substitution at nucleotide position 3643, causing the valine (V) at amino acid position 1215 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.