ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1129C>T (p.Pro377Ser)

gnomAD frequency: 0.00001  dbSNP: rs778433259
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000636245 SCV000757681 uncertain significance Hereditary hemochromatosis 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 377 of the TFR2 protein (p.Pro377Ser). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and serine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with TFR2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001829786 SCV002079941 uncertain significance Hemochromatosis type 3 2020-09-11 no assertion criteria provided clinical testing

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