ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.113G>A (p.Gly38Glu)

gnomAD frequency: 0.00001  dbSNP: rs757172223
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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 RCV001308599 SCV001498058 uncertain significance Brugada syndrome 6 2023-07-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamic acid amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. ClinVar contains an entry for this variant (Variation ID: 1010885). This variant has not been reported in the literature in individuals affected with KCNE3-related conditions. This variant is present in population databases (rs757172223, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 38 of the KCNE3 protein (p.Gly38Glu).

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