ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp)

gnomAD frequency: 0.00006  dbSNP: rs202221581
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000699475 SCV000828188 uncertain significance Hereditary hemochromatosis 2024-01-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 373 of the TFR2 protein (p.Gly373Asp). This variant is present in population databases (rs202221581, gnomAD 0.05%). This missense change has been observed in individual(s) with hemachromatosis (PMID: 22890139, 24055163). ClinVar contains an entry for this variant (Variation ID: 576868). 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 with a negative predictive value of 80%. 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.
Mendelics RCV000987938 SCV001137432 uncertain significance Hemochromatosis type 1 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000998861 SCV001155174 uncertain significance not provided 2019-03-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164901 SCV001327061 uncertain significance Hemochromatosis type 3 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV001164901 SCV002789928 uncertain significance Hemochromatosis type 3 2022-05-02 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000998861 SCV005195480 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV001164901 SCV001453768 uncertain significance Hemochromatosis type 3 2020-09-16 no assertion criteria provided clinical testing

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