ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.99G>T (p.Arg33Ser)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003876038 SCV004677433 uncertain significance Long QT syndrome 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 33 of the KCNE1 protein (p.Arg33Ser). This variant is present in population databases (rs771964597, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with KCNE1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on KCNE1 protein function. 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 RCV004369589 SCV005033002 uncertain significance Cardiovascular phenotype 2023-10-03 criteria provided, single submitter clinical testing The p.R33S variant (also known as c.99G>T), located in coding exon 1 of the KCNE1 gene, results from a G to T substitution at nucleotide position 99. The arginine at codon 33 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Roden Lab, Vanderbilt University Medical Center RCV004780682 SCV005393041 not provided Long QT syndrome 5 no assertion provided in vitro

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