Submissions for variant NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=)

gnomAD frequency: 0.70278  dbSNP: rs1137617

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000181727	SCV000234030	benign	not specified	2012-04-12	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	RCV000181727	SCV000303113	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253499	SCV000317646	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	RCV001095278	SCV000467517	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	RCV000181727	SCV000539427	benign	not specified	2019-03-05	criteria provided, single submitter	clinical testing	The c.1956T>C (p.Tyr652Tyr) variant in KCNH2 is classified as benign because it has been found in 67% (186322/279284) of chromosomes, including 63675 homozygotes, by the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/7-150648198-A-G).
Athena Diagnostics Inc	RCV000710149	SCV000613853	benign	not provided	2017-06-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842805	SCV000910502	benign	Cardiac arrhythmia	2018-03-15	criteria provided, single submitter	clinical testing
Invitae	RCV000283094	SCV001000059	benign	Long QT syndrome	2024-02-01	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000710149	SCV001156897	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000181727	SCV001433181	benign	not specified	2020-05-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001095278	SCV001980880	benign	Long QT syndrome 2	2021-08-19	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000181727	SCV001740720	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000181727	SCV001917029	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000181727	SCV001932339	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000181727	SCV001953027	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000181727	SCV001971879	benign	not specified		no assertion criteria provided	clinical testing
Cohesion Phenomics	RCV000283094	SCV003803663	benign	Long QT syndrome	2022-09-23	no assertion criteria provided	clinical testing