ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.313C>T (p.Arg105Ter)

dbSNP: rs80338878
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851971 SCV002232741 pathogenic Hereditary hemochromatosis 2024-03-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg105*) 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 (rs80338878, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with hemochromatosis (PMID: 15147384). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 21375). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000020548 SCV003811531 likely pathogenic Hemochromatosis type 3 2022-01-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000020548 SCV004203680 pathogenic Hemochromatosis type 3 2023-11-14 criteria provided, single submitter clinical testing
GeneReviews RCV000020548 SCV000041015 not provided Hemochromatosis type 3 no assertion provided literature only

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