Total submissions: 4
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, |
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, |
RCV003889990 | SCV004705565 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research |