ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.1000G>T (p.Gly334Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005206467 SCV005846722 uncertain significance Hereditary hemochromatosis 2024-07-10 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 334 of the HFE protein (p.Gly334Cys). This variant is present in population databases (rs765545512, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with HFE-related conditions. 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 HFE 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.

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