ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.665A>T (p.Glu222Val)

dbSNP: rs763919775
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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 RCV001853283 SCV002186471 uncertain significance Hereditary hemochromatosis 2021-07-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 222 of the TFR2 protein (p.Glu222Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant has not been reported in the literature in individuals affected with TFR2-related conditions. 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. RCV001833171 SCV002079946 uncertain significance Hemochromatosis type 3 2020-12-28 no assertion criteria provided clinical testing

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