ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.405_406del (p.Tyr136fs)

dbSNP: rs868823304
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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 RCV001385290 SCV001585093 pathogenic Hereditary hemochromatosis 2023-04-06 criteria provided, single submitter clinical testing 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.Tyr136Leufs*80) 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). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473959 SCV004203690 likely pathogenic Hemochromatosis type 3 2023-06-15 criteria provided, single submitter clinical testing

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