ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2137-1G>A

gnomAD frequency: 0.00001  dbSNP: rs80338890
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001368635 SCV001565036 uncertain significance Hereditary hemochromatosis 2021-08-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 of the TFR2 gene. While this variant is not anticipated to result in nonsense mediated decay, it likely alters RNA splicing and results in a disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. Disruption of this splice site has been observed in individual(s) with hereditary hemochromatosis (PMID: 18245657). This variant is also known as IVS17+5636G>A. ClinVar contains an entry for this variant (Variation ID: 21371). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Baylor Genetics RCV000020544 SCV004203706 likely pathogenic Hemochromatosis type 3 2023-12-04 criteria provided, single submitter clinical testing
GeneReviews RCV000020544 SCV000041011 not provided Hemochromatosis type 3 no assertion provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.