ClinVar Miner

Submissions for variant NM_172056.2(KCNH2):c.558C>T (p.Gly186=) (rs139533994)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181718 SCV000234021 benign not specified 2013-01-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001086460 SCV000260585 likely benign Long QT syndrome 2020-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589337 SCV000696034 benign not provided 2017-03-13 criteria provided, single submitter clinical testing Variant summary: The KCNH2 c.558C>T (p.Gly186Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts a benign outcome for this variant. 2/5 splice prediction tools predict a creation of a cryptic splice donor site. ESE finder predicts that this variant may affect binding of ESE sites. However, these predictions have yet to be confirmed by functional studies. This variant was found in 6/2504 control chromosomes from 1000 genomes project at a frequency of 0.0023962, which is approximately 24 times the estimated maximal expected allele frequency of a pathogenic KCNH2 variant (0.0001), suggesting this variant is likely a benign polymorphism. It was only found in African subpopulation with an allele frequency of 0.005 (6/1322 chromosomes). In addition, multiple clinical diagnostic laboratories/reputable databases have classified this variant as benign. Taken together, this variant is classified as Benign.
Ambry Genetics RCV000620996 SCV000735728 likely benign Cardiovascular phenotype 2016-06-14 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Athena Diagnostics Inc RCV000589337 SCV000842498 benign not provided 2018-06-20 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.