ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1288G>A (p.Gly430Arg)

dbSNP: rs780902940
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998860 SCV001155172 uncertain significance not provided 2019-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002549110 SCV002948652 pathogenic Hereditary hemochromatosis 2024-01-16 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 430 of the TFR2 protein (p.Gly430Arg). This variant is present in population databases (rs780902940, gnomAD 0.003%). This missense change has been observed in individuals with hemochromatosis (PMID: 22981443, 23600741, 27896572, 35462491). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 810145). 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 expected to disrupt TFR2 protein function with a positive predictive value of 80%. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003473539 SCV004203689 pathogenic Hemochromatosis type 3 2024-03-18 criteria provided, single submitter clinical testing

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