ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1450G>A (p.Val484Met)

gnomAD frequency: 0.00001  dbSNP: rs533880980
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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 RCV001239807 SCV001412707 uncertain significance Hereditary hemochromatosis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 484 of the TFR2 protein (p.Val484Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs533880980, ExAC 0.04%). This variant has not been reported in the literature in individuals affected with TFR2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001828938 SCV002079936 uncertain significance Hemochromatosis type 3 2020-04-16 no assertion criteria provided clinical testing

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