ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.661G>T (p.Gly221Ter)

dbSNP: rs763292953
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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 RCV001390139 SCV001591773 pathogenic Hereditary hemochromatosis 2023-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1076276). This variant has not been reported in the literature in individuals affected with TFR2-related conditions. This variant is present in population databases (rs763292953, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Gly221*) in the TFR2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TFR2 are known to be pathogenic (PMID: 23600741, 26029709).
Baylor Genetics RCV003473996 SCV004203698 likely pathogenic Hemochromatosis type 3 2023-05-17 criteria provided, single submitter clinical testing

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