ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile)

gnomAD frequency: 0.00012  dbSNP: rs139040374
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000251523 SCV000319973 benign Cardiovascular phenotype 2023-12-18 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001047989 SCV001211976 uncertain significance Brugada syndrome 6 2025-01-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 9 of the KCNE3 protein (p.Thr9Ile). This variant is present in population databases (rs139040374, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with KCNE3-related conditions. ClinVar contains an entry for this variant (Variation ID: 264211). 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. 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.
Dept of Medical Biology, Uskudar University RCV003318372 SCV004022014 uncertain significance Long QT syndrome 2024-01-08 criteria provided, single submitter research Criteria: BS2

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