ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs)

dbSNP: rs1463281712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001967760 SCV002218854 pathogenic Hereditary hemochromatosis 2023-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala743Profs*48) in the TFR2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 59 amino acid(s) of the TFR2 protein. This variant is present in population databases (no rsID available, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with TFR2-related conditions. This variant disrupts a region of the TFR2 protein in which other variant(s) (p.Trp781*) have been determined to be pathogenic (PMID: 23600741; Invitae). 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 RCV003475193 SCV004203691 likely pathogenic Hemochromatosis type 3 2023-06-09 criteria provided, single submitter clinical testing

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