ClinVar Miner

Submissions for variant NM_182916.3(TRNT1):c.295C>T (p.Arg99Trp)

gnomAD frequency: 0.00001  dbSNP: rs759826831
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
Invitae RCV000816748 SCV000957271 uncertain significance Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 2022-08-05 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 99 of the TRNT1 protein (p.Arg99Trp). This variant is present in population databases (rs759826831, gnomAD 0.007%). This missense change has been observed in individuals with clinical features of TRNT1-related conditions (PMID: 27389523, 27531075, 29358286). ClinVar contains an entry for this variant (Variation ID: 659705). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Fulgent Genetics, Fulgent Genetics RCV002507428 SCV002816952 uncertain significance Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome; Retinitis pigmentosa and erythrocytic microcytosis 2021-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534907 SCV003721091 uncertain significance Inborn genetic diseases 2021-01-13 criteria provided, single submitter clinical testing The c.295C>T (p.R99W) alteration is located in exon 3 (coding exon 2) of the TRNT1 gene. This alteration results from a C to T substitution at nucleotide position 295, causing the arginine (R) at amino acid position 99 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Dept Of Ophthalmology, Nagoya University RCV003889990 SCV004705565 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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.