ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro)

dbSNP: rs786204108
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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 RCV000168040 SCV000218692 likely pathogenic Hereditary hemochromatosis 2021-07-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 678 of the TFR2 protein (p.Arg678Pro). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and proline. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individuals with hereditary hemochromatosis (PMID: 23600741, 26408288). ClinVar contains an entry for this variant (Variation ID: 188153). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Baylor Genetics RCV001831985 SCV004203707 likely pathogenic Hemochromatosis type 3 2024-03-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001831985 SCV005674094 likely pathogenic Hemochromatosis type 3 2024-05-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831985 SCV002079928 likely pathogenic Hemochromatosis type 3 2020-10-06 no assertion criteria provided clinical testing

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