ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2084C>A (p.Ser695Ter)

dbSNP: rs1188426077
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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 RCV001386233 SCV001586373 pathogenic Hereditary hemochromatosis 2023-05-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser695*) 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). 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: 1073275). For these reasons, this variant has been classified as Pathogenic.

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