ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.2921C>G (p.Ser974Ter)

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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 RCV003753673 SCV004535613 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-10-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser974*) in the KCNH5 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acid(s) of the KCNH5 protein. This variant is present in population databases (rs202153924, gnomAD 0.01%). 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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