ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.829G>T (p.Val277Leu)

gnomAD frequency: 0.00004  dbSNP: rs754813237
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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 RCV002515188 SCV003264770 uncertain significance Hereditary hemochromatosis 2021-09-08 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 277 of the TFR2 protein (p.Val277Leu). The valine residue is weakly conserved and there is a small physicochemical difference between valine and leucine. 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 leucine 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. RCV001272121 SCV001453770 uncertain significance Hemochromatosis type 3 2020-09-16 no assertion criteria provided clinical testing

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