ClinVar Miner

Submissions for variant NM_012282.4(KCNE5):c.277G>T (p.Glu93Ter)

gnomAD frequency: 0.00006  dbSNP: rs61729624
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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 RCV001212968 SCV001384580 uncertain significance Brugada syndrome 2019-09-25 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the KCNE5 gene (p.Glu93*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 50 amino acids of the KCNE5 protein. This variant is present in population databases (rs61729624, ExAC 0.07%). This variant has not been reported in the literature in individuals with KCNE5-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, 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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