ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.295C>T (p.Arg99Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002441965 SCV002751984 uncertain significance Cardiovascular phenotype 2022-03-06 criteria provided, single submitter clinical testing The p.R99C variant (also known as c.295C>T), located in coding exon 1 of the KCNE3 gene, results from a C to T substitution at nucleotide position 295. The arginine at codon 99 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003102923 SCV003020653 uncertain significance Brugada syndrome 6 2022-06-14 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with KCNE3-related conditions. This variant is present in population databases (rs748088627, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 99 of the KCNE3 protein (p.Arg99Cys).

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