ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.959C>G (p.Ser320Trp) (rs199472886)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181773 SCV000234076 uncertain significance not provided 2017-01-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the KCNH2 gene. The S320W variant in the KCNH2 gene has been reported in association with LQTS (Lieve et al., 2013). Additionally, a variant at this same residue (S320L) has been reported in in association with LQTS (Tester et al., 2005); however, the clinical significance of this variant has not been definitively determined. The S320W variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S320W 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. Moreover, this substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Nevertheless, this variant lacks sufficient evidence, such as segregation data and functional evidence, which would further support its pathogenicity. Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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.