ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1470del (p.Glu491fs)

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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 RCV002630749 SCV002968770 pathogenic Hereditary hemochromatosis 2022-12-16 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with TFR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu491Argfs*12) in the TFR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TFR2 are known to be pathogenic (PMID: 23600741, 26029709).
Baylor Genetics RCV003475403 SCV004203702 likely pathogenic Hemochromatosis type 3 2023-05-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003475403 SCV005674099 likely pathogenic Hemochromatosis type 3 2024-05-04 criteria provided, single submitter clinical testing

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