ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.622C>A (p.Pro208Thr)

dbSNP: rs866376221
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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 RCV000694916 SCV000823382 uncertain significance Hereditary hemochromatosis 2018-02-07 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with HFE-related disease. 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with threonine at codon 208 of the HFE protein (p.Pro208Thr). The proline residue is highly conserved and there is a small physicochemical difference between proline and threonine.

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