Submissions for variant NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile)

dbSNP: rs199473018

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000181903	SCV000234206	likely pathogenic	not provided	2021-12-13	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (Lek et al., 2016); Published functional studies suggest the variant reduces channel current, prolongs action potentials, and decreases trafficking of channels to the cell's surface (Bellin M et al., 2013); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 15851119, 15840476, 19841300, 22581653, 31737537, 22949429, 24213244)
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues	RCV001248786	SCV001422296	pathogenic	Long QT syndrome 2	2020-02-24	criteria provided, single submitter	clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	RCV001248786	SCV003932140	likely pathogenic	Long QT syndrome 2	2023-02-20	criteria provided, single submitter	clinical testing	PS3, PS4_Supporting, PM2, PP2, PP3
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust	RCV000058185	SCV000089705	not provided	Congenital long QT syndrome		no assertion provided	literature only	This variant has been reported as associated with Long QT syndrome in the following publications (PMID:15840476;PMID:15851119;PMID:19841300). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.