ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2162del (p.Tyr721fs)

dbSNP: rs2131304244
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001377637 SCV001575020 likely pathogenic Hereditary hemochromatosis 2020-02-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TFR2 gene (p.Tyr721Serfs*56). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 81 amino acids of the TFR2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TFR2-related conditions. This variant disrupts the p.Gly792 amino acid residue in TFR2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16424658, 26029709). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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