ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2236dup (p.Asp746fs)

dbSNP: rs777027788
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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 RCV001385287 SCV001585086 pathogenic Hereditary hemochromatosis 2021-02-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the TFR2 protein. Other variant(s) that disrupt this region (p.Trp781*) have been determined to be pathogenic (PMID: 23600741, 26029709). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with TFR2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change results in a premature translational stop signal in the TFR2 gene (p.Asp746Glyfs*46). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 56 amino acids of the TFR2 protein.
Baylor Genetics RCV003473958 SCV004203684 likely pathogenic Hemochromatosis type 3 2024-02-26 criteria provided, single submitter clinical testing

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