ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) (rs200856070)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490275 SCV000267372 likely pathogenic Brugada syndrome 6 2016-03-18 criteria provided, single submitter reference population
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000455941 SCV000539423 uncertain significance not specified 2016-03-31 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 2 probands, some functional data, but high in ExAC: 0.1% (9/8646) East Asian
Ambry Genetics RCV000621765 SCV000736218 likely benign Cardiovascular phenotype 2020-10-13 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Mendelics RCV000988596 SCV001138375 uncertain significance Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000490275 SCV001508417 uncertain significance Brugada syndrome 6 2020-03-16 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 4 of the KCNE3 protein (p.Thr4Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs200856070, ExAC 0.1%). This variant has been observed in individual(s) with clinical features of long QT syndrome or Brugada syndrome (PMID: 19306396, 22987075, 28747690). However, in two of these individuals additional variants were also identified in other genes associated with long QT syndrome, which suggests that this c.10A>G variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 126426). This variant has been reported to have conflicting or insufficient data to determine the effect on KCNE3 protein function (PMID: 19306396, 22987075). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000114366 SCV000147978 uncertain significance not provided 2012-01-01 no assertion criteria provided literature only

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