ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1528G>A (p.Ala510Thr)

gnomAD frequency: 0.00001  dbSNP: rs200053955
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000459370 SCV000550570 uncertain significance Hereditary hemochromatosis 2022-04-04 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 510 of the TFR2 protein (p.Ala510Thr). This variant is present in population databases (rs200053955, gnomAD 0.09%). This variant has not been reported in the literature in individuals affected with TFR2-related conditions. ClinVar contains an entry for this variant (Variation ID: 410076). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Fulgent Genetics, Fulgent Genetics RCV000765899 SCV000897319 uncertain significance Hemochromatosis type 3 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000765899 SCV001455739 uncertain significance Hemochromatosis type 3 2020-03-17 no assertion criteria provided clinical testing

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