ClinVar Miner

Submissions for variant NM_172201.2(KCNE2):c.171T>G (p.Ile57Met)

gnomAD frequency: 0.00001  dbSNP: rs146053586
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001050335 SCV001214434 uncertain significance Long QT syndrome 6 2019-11-18 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with KCNE2-related conditions. This variant is present in population databases (rs146053586, ExAC 0.01%). This sequence change replaces isoleucine with methionine at codon 57 of the KCNE2 protein (p.Ile57Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine.

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