ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.3232C>T (p.Arg1078Cys)

gnomAD frequency: 0.00006  dbSNP: rs771499492
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
Illumina Laboratory Services, Illumina RCV000778675 SCV000915015 uncertain significance Cranioectodermal dysplasia 1 2018-09-07 criteria provided, single submitter clinical testing The IFT122 c.3385C>T (p.Arg1129Cys) missense variant has been reported in a single study and identified in a compound heterozygous state in one individual with a clinical diagnosis of cranioectodermal dysplasia (Xu et al. 2017). The novel variant was confirmed to be inherited paternally. The p.Arg1129Cys variant is reported at a frequency of 0.000099 in the South Asian population of the Genome Aggregation Database. Based on the evidence, the p.Arg1129Cys variant is classified as a variant of unknown significance but suspicious for pathogenicity for cranioectodermal dysplasia. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Labcorp Genetics (formerly Invitae), Labcorp RCV000778675 SCV003514851 uncertain significance Cranioectodermal dysplasia 1 2022-03-19 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: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 631906). This missense change has been observed in individual(s) with clinical features of short-rib thoracic dysplasia (PMID: 29037998). This variant is present in population databases (rs771499492, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1129 of the IFT122 protein (p.Arg1129Cys).
Fulgent Genetics, Fulgent Genetics RCV000778675 SCV005661413 uncertain significance Cranioectodermal dysplasia 1 2024-04-13 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.