ClinVar Miner

Submissions for variant NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) (rs141069645)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000755556 SCV000604062 uncertain significance not provided 2017-05-26 criteria provided, single submitter clinical testing The p.Asn410Ser variant (rs141069645) has been previously reported once in a cohort of arrhythmogenic right ventricular cardiomyopathy (AVRC) patients (Sabater-Molina 2013); however, specific genetic and clinical information about the patient in question was not reported. This variant is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.034% (identified in 94 out of 276,876 chromosomes) and is listed the ClinVar database as likely benign or as a variant of uncertain significance (Variation ID: 190804). The asparagine at codon 410 is highly conserved considering 14 species up to frog (Alamut software v2.9), although several species of fish have a serine at this position, suggesting this change is evolutionary tolerated. Likewise, computational analyses suggest this variant does not have a significant effect on KCNJ2 protein structure/function (SIFT: tolerated, PolyPhen2: benign). However, based on the available information, the clinical significance of the p.Asn410Ser variant cannot be determined with certainty.
Ambry Genetics RCV000618240 SCV000735566 likely benign Cardiovascular phenotype 2016-10-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
GeneDx RCV000170968 SCV000223531 likely benign not specified 2017-12-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000289555 SCV000406003 likely benign Andersen Tawil syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346966 SCV000406004 likely benign Familial atrial fibrillation 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000385149 SCV000406005 likely benign short QT syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000476636 SCV000554350 likely benign Andersen Tawil syndrome; Short QT syndrome 3 2017-10-26 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.