ClinVar Miner

Submissions for variant NM_001128225.3(SLC39A13):c.302-3T>C

gnomAD frequency: 0.00012  dbSNP: rs371414744
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
Invitae RCV000808974 SCV000949108 uncertain significance Ehlers-Danlos syndrome, spondylocheirodysplastic type 2018-11-12 criteria provided, single submitter clinical testing 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. Nucleotide substitutions within 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 is not likely to affect RNA splicing, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with SLC39A13-related disease. This variant is present in population databases (rs371414744, ExAC 0.04%). This sequence change falls in intron 2 of the SLC39A13 gene. It does not directly change the encoded amino acid sequence of the SLC39A13 protein, but it affects a nucleotide within the consensus splice site of the intron.
GeneDx RCV001570495 SCV001794797 likely benign not provided 2019-06-14 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000808974 SCV003821366 uncertain significance Ehlers-Danlos syndrome, spondylocheirodysplastic type 2020-09-18 criteria provided, single submitter clinical testing

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.