ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2343G>A (p.Trp781Ter)

gnomAD frequency: 0.00004  dbSNP: rs768907730
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001065051 SCV001229989 pathogenic Hereditary hemochromatosis 2023-07-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp781*) in the TFR2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acid(s) of the TFR2 protein. This variant is present in population databases (rs768907730, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with hemochromatosis (PMID: 23600741). ClinVar contains an entry for this variant (Variation ID: 859038). This variant disrupts a region of the TFR2 protein in which other variant(s) (p.Gly792Arg) have been determined to be pathogenic (PMID: 16424658, 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 RCV001827421 SCV004203693 likely pathogenic Hemochromatosis type 3 2024-02-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827421 SCV002079917 likely pathogenic Hemochromatosis type 3 2020-08-03 no assertion criteria provided clinical testing

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