ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.2554G>A (p.Gly852Arg) (rs139247073)

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
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000171664 SCV000055203 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000171664 SCV000234164 uncertain significance not provided 2016-12-01 criteria provided, single submitter clinical testing The Gly852Arg variant in the KCNH2 gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism, to our knowledge. Gly852Arg results in a non-conservative amino acid substitution of a non-polar Glycine with a positively charged Arginine. The NHLBI ESP Exome Variant Server reports Gly852Arg was not observed in approximately 5,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. However, the Gly852Arg variant occurs in an alternative transcript where no mutations have been reported to date. As the expression pattern of this alternative transcript of KCNH2 is unknown, it is not possible to predict whether this variant is clinically significant or a benign variant.In summary, the clinical significance of Gly852Arg in the KCNH2 gene is currently unknown.
Color RCV000771910 SCV000904676 likely benign Arrhythmia 2018-06-18 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.