ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1849GCCGTGGCCCAG[1] (p.617AVAQ[1])

dbSNP: rs80338888
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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 RCV001390238 SCV001591907 pathogenic Hereditary hemochromatosis 2024-01-22 criteria provided, single submitter clinical testing This variant, c.1861_1872del, results in the deletion of 4 amino acid(s) of the TFR2 protein (p.Ala621_Gln624del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs80338888, gnomAD 0.004%). This variant has been observed in individuals with hereditary hemochromatosis (PMID: 11984516, 12809944, 26408288). It has also been observed to segregate with disease in related individuals. This variant is also known as AVAQ 594-597 del. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects TFR2 function (PMID: 18094142, 26408288). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000020543 SCV004203674 pathogenic Hemochromatosis type 3 2024-03-07 criteria provided, single submitter clinical testing
GeneReviews RCV000020543 SCV000041009 not provided Hemochromatosis type 3 no assertion provided literature only

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