ClinVar Miner

Submissions for variant NM_005472.5(KCNE3):c.278_279del (p.His93fs)

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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 RCV003876441 SCV004680056 uncertain significance Brugada syndrome 6 2023-11-27 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the KCNE3 gene (p.His93Argfs*54). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 11 amino acid(s) of the KCNE3 protein and extend the protein by 42 additional amino acid residues. This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with KCNE3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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