ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1629del (p.Gln544fs)

dbSNP: rs749211542
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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 RCV001035774 SCV001199109 pathogenic Hereditary hemochromatosis 2024-12-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln544Argfs*18) 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 present in population databases (rs749211542, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with TFR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 834979). For these reasons, this variant has been classified as Pathogenic.

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