ClinVar Miner

Submissions for variant NM_001128431.4(SLC39A14):c.1066G>A (p.Gly356Ser)

gnomAD frequency: 0.00001  dbSNP: rs774860376
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523828 SCV000621451 uncertain significance not provided 2017-10-09 criteria provided, single submitter clinical testing The G356S variant in the SLC39A14 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G356S variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The G356S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the proteinstructure/function. We interpret G356S as a variant of uncertain significance.
OMIM RCV001814184 SCV002061330 pathogenic Hypermanganesemia with dystonia 2 2022-01-19 no assertion criteria 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.