ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.840C>G (p.Phe280Leu)

gnomAD frequency: 0.00038  dbSNP: rs151198873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301344 SCV000340746 uncertain significance not provided 2016-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552574 SCV000633741 uncertain significance Hereditary hemochromatosis 2022-10-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 280 of the TFR2 protein (p.Phe280Leu). This variant is present in population databases (rs151198873, gnomAD 0.1%). This missense change has been observed in individual(s) with hemochromatosis (PMID: 18762941, 21770687). ClinVar contains an entry for this variant (Variation ID: 287086). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TFR2 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. RCV001275100 SCV001459854 uncertain significance Hemochromatosis type 3 2020-01-14 no assertion criteria provided clinical testing

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