ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2269G>A (p.Gly757Arg)

gnomAD frequency: 0.00005  dbSNP: rs774907552
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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 RCV000234223 SCV000287900 uncertain significance Hereditary hemochromatosis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 757 of the TFR2 protein (p.Gly757Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs774907552, ExAC 0.02%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. RCV001835734 SCV002079921 uncertain significance Hemochromatosis type 3 2020-02-01 no assertion criteria provided clinical testing

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