Submissions for variant NM_000238.4(KCNH2):c.1320G>T (p.Pro440=)

dbSNP: rs144926928

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000199781	SCV000252633	benign	Long QT syndrome	2024-01-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000247948	SCV000320195	likely benign	Cardiovascular phenotype	2015-09-21	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.
Illumina Laboratory Services, Illumina	RCV001095199	SCV000467526	uncertain significance	Long QT syndrome 2	2018-01-13	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Eurofins Ntd Llc (ga)	RCV000591334	SCV000704873	uncertain significance	not provided	2017-01-16	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001842946	SCV000902965	likely benign	Cardiac arrhythmia	2018-09-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000591334	SCV001144310	likely benign	not provided	2019-01-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000591334	SCV001913257	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001797676	SCV002041512	benign	not specified	2021-11-21	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000591334	SCV002821861	likely benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	KCNH2: BP4, BP7, BS1
All of Us Research Program, National Institutes of Health	RCV000199781	SCV004844007	likely benign	Long QT syndrome	2024-02-05	criteria provided, single submitter	clinical testing