ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.33+1del

dbSNP: rs1803699632
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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 RCV001898123 SCV002165440 pathogenic Hereditary hemochromatosis 2023-03-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1389891). This variant is also known as c.33+1del. This variant has not been reported in the literature in individuals affected with TFR2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln12Asnfs*45) 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 RCV003475145 SCV004203717 likely pathogenic Hemochromatosis type 3 2022-07-26 criteria provided, single submitter clinical testing

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