ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1163del (p.Pro388fs)

dbSNP: rs1422733588
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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 RCV001055157 SCV001219529 pathogenic Hereditary hemochromatosis 2023-06-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro388Leufs*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). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 850883). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005047258 SCV005674100 likely pathogenic Hemochromatosis type 3 2024-05-24 criteria provided, single submitter clinical testing

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