ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.88dup (p.Arg30fs)

dbSNP: rs80338877
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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 RCV001381389 SCV001579766 pathogenic Hereditary hemochromatosis 2023-10-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg30Profs*31) 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 premature translational stop signal has been observed in individual(s) with hemochromatosis (PMID: 11313241, 26408288). It has also been observed to segregate with disease in related individuals. This variant is also known as 84-88 insC (E60X). ClinVar contains an entry for this variant (Variation ID: 5381). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005712 SCV000025894 pathogenic Hemochromatosis type 3 2001-05-01 no assertion criteria provided literature only
GeneReviews RCV000005712 SCV000041021 not provided Hemochromatosis type 3 no assertion provided literature only

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