ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1939G>A (p.Gly647Arg)

gnomAD frequency: 0.00001  dbSNP: rs759540608
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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 RCV002917197 SCV003249156 uncertain significance Hereditary hemochromatosis 2022-04-21 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 647 of the TFR2 protein (p.Gly647Arg). This variant is present in population databases (rs759540608, gnomAD 0.002%). This missense change has been observed in individual(s) with clinical features of hemochromatosis (Invitae). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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