ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.1403CAA[1] (p.Thr469del)

dbSNP: rs2140045637
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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 RCV001894345 SCV002126121 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-05 criteria provided, single submitter clinical testing This variant, c.1406_1408del, results in the deletion of 1 amino acid(s) of the KCNH5 protein (p.Thr469del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNH5-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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