ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2096_2100del (p.Asp699fs)

dbSNP: rs2486114850
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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 RCV003832884 SCV004630075 pathogenic Hereditary hemochromatosis 2023-10-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp699Alafs*91) in the TFR2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acid(s) of the TFR2 protein. This variant is not present in population databases (gnomAD no frequency). 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.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.
Fulgent Genetics, Fulgent Genetics RCV005040541 SCV005674091 likely pathogenic Hemochromatosis type 3 2024-05-16 criteria provided, single submitter clinical testing

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