ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1942del (p.Asp648fs)

dbSNP: rs2486117181
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003877390 SCV004684371 pathogenic Hereditary hemochromatosis 2023-10-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp648Thrfs*22) 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). 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. For these reasons, this variant has been classified as Pathogenic.

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