Submissions for variant NM_000219.6(KCNE1):c.174C>G (p.Thr58=)

gnomAD frequency: 0.00002  dbSNP: rs727503101

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150857	SCV000198415	likely benign	not specified	2014-08-05	criteria provided, single submitter	clinical testing	Thr58Thr in exon 3 of KCNE1: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence.
GeneDx	RCV000150857	SCV000529076	likely benign	not specified	2016-06-20	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861864	SCV001002275	likely benign	Long QT syndrome	2024-05-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002399525	SCV002711628	likely benign	Cardiovascular phenotype	2022-10-27	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.
Clinical Genetics, Academic Medical Center	RCV000150857	SCV001918083	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701620	SCV001931811	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701620	SCV001969572	likely benign	not provided		no assertion criteria provided	clinical testing
Roden Lab, Vanderbilt University Medical Center	RCV004777604	SCV005393284	not provided	Long QT syndrome 5		no assertion provided	in vitro