ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=)

gnomAD frequency: 0.00009  dbSNP: rs200692436
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000590102 SCV000523761 likely benign not provided 2018-04-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000590102 SCV000696020 benign not provided 2016-10-31 criteria provided, single submitter clinical testing Variant summary: The c.1224T>C (p.Tyr545=) in KCNH2 gene is a synonymous change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect a normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in control population dataset of ExAC at a frequency of 0.00014 (16/118420 chrs tested), predominantly in individuals of East Asian descent (0.0013; 11/8596 chrs tested). These frequencies exceed the estimated maximal expected allele frequency of a pathogenic variant in KCNH2 gene (0.0001). The variant has not, to our knowledge, been reported in affected individuals or cited by a reputable database/clinical laboratory, but was reported as a polymorphism in healthy Chinese controls (Koo, 2006). Taking together, the variant was classified as Benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087028 SCV000752951 benign Long QT syndrome 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001159680 SCV001321408 uncertain significance Long QT syndrome 2 2018-08-16 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Color Diagnostics, LLC DBA Color Health RCV001841317 SCV001345211 likely benign Cardiac arrhythmia 2019-09-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402150 SCV002707927 likely benign Cardiovascular phenotype 2020-03-04 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV001087028 SCV004843970 likely benign Long QT syndrome 2024-01-11 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.