ClinVar Miner

Submissions for variant NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser)

gnomAD frequency: 0.00001  dbSNP: rs1434304789
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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 RCV001228752 SCV001401169 uncertain significance Long QT syndrome 6 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 81 of the KCNE2 protein (p.Asn81Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with KCNE2-related conditions. 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 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.
Ambry Genetics RCV002447147 SCV002732915 uncertain significance Cardiovascular phenotype 2022-05-02 criteria provided, single submitter clinical testing The p.N81S variant (also known as c.242A>G), located in coding exon 1 of the KCNE2 gene, results from an A to G substitution at nucleotide position 242. The asparagine at codon 81 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
Fulgent Genetics, Fulgent Genetics RCV002491725 SCV002775550 uncertain significance Atrial fibrillation, familial, 4; Long QT syndrome 6 2021-09-07 criteria provided, single submitter clinical testing

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