Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Mendelics | RCV000987937 | SCV001137431 | pathogenic | Hemochromatosis type 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001068810 | SCV001233942 | pathogenic | Hereditary hemochromatosis | 2024-08-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg701*) in the TFR2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 101 amino acid(s) of the TFR2 protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TFR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 802342). This variant disrupts a region of the TFR2 protein in which other variant(s) (p.Trp781*) have been determined to be pathogenic (PMID: 23600741, 26029709). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003473533 | SCV004203671 | likely pathogenic | Hemochromatosis type 3 | 2024-02-15 | criteria provided, single submitter | clinical testing |