ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.1692A>G (p.Leu564=)

gnomAD frequency: 0.51247  dbSNP: rs1805121
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181726 SCV000234029 benign not specified 2011-07-10 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.
Preventiongenetics, part of Exact Sciences RCV000181726 SCV000303112 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000245504 SCV000317647 benign Cardiovascular phenotype 2015-02-19 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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.
Illumina Laboratory Services, Illumina RCV001095280 SCV000467519 benign Long QT syndrome 2 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000181726 SCV000711389 benign not specified 2017-11-02 criteria provided, single submitter clinical testing Leu564Leu in exon 7 of KCNH2: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 87% (16383/18860) o f East Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs1805121).
Athena Diagnostics Inc RCV000712073 SCV000842487 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001842804 SCV000902536 benign Cardiac arrhythmia 2018-03-16 criteria provided, single submitter clinical testing
Invitae RCV000378634 SCV001000275 benign Long QT syndrome 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001095280 SCV001980881 benign Long QT syndrome 2 2021-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000181726 SCV001923867 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000181726 SCV001953909 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000181726 SCV001975036 benign not specified no assertion criteria provided clinical testing
Cohesion Phenomics RCV000378634 SCV003803662 benign Long QT syndrome 2022-09-23 no assertion criteria provided clinical testing

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