ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3068G>A (p.Arg1023His)

gnomAD frequency: 0.00002  dbSNP: rs753932809
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001308475 SCV001497927 uncertain significance Cranioectodermal dysplasia 1 2023-06-13 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. 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 IFT122 protein function. ClinVar contains an entry for this variant (Variation ID: 1010783). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. This variant is present in population databases (rs753932809, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1074 of the IFT122 protein (p.Arg1074His).
Baylor Genetics RCV001308475 SCV001523645 uncertain significance Cranioectodermal dysplasia 1 2020-06-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV001308475 SCV002778955 uncertain significance Cranioectodermal dysplasia 1 2021-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034171 SCV004885916 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.3221G>A (p.R1074H) alteration is located in exon 26 (coding exon 26) of the IFT122 gene. This alteration results from a G to A substitution at nucleotide position 3221, causing the arginine (R) at amino acid position 1074 to be replaced by a histidine (H). 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.