ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.158G>A (p.Arg53His)

gnomAD frequency: 0.00010  dbSNP: rs565287436
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000454617 SCV000539424 uncertain significance not specified 2016-06-23 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: Published in 1 case report (which is not accessible)
Labcorp Genetics (formerly Invitae), Labcorp RCV001058599 SCV001223183 uncertain significance Brugada syndrome 6 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 53 of the KCNE3 protein (p.Arg53His). This variant is present in population databases (rs565287436, gnomAD 0.04%). This missense change has been observed in individual(s) with atrial fibrillation (PMID: 16313760). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 402993). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on KCNE3 function (PMID: 16313760). 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.
Ambry Genetics RCV002402224 SCV002708962 likely benign Cardiovascular phenotype 2024-06-10 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.
Fulgent Genetics, Fulgent Genetics RCV001058599 SCV002784236 uncertain significance Brugada syndrome 6 2021-07-28 criteria provided, single submitter clinical testing

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