Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000579136 | SCV001388836 | uncertain significance | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | 2019-06-19 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with TRNT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 489387). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with threonine at codon 271 of the TRNT1 protein (p.Ala271Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. |
| Genome |
RCV000579136 | SCV000681392 | not provided | Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome | no assertion provided | phenotyping only | GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant. |