ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.568dup (p.Asp190fs)

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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 RCV003752726 SCV004471750 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-06-09 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals affected with KCNH5-related conditions. This variant is present in population databases (rs773847489, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp190Glyfs*7) in the KCNH5 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in KCNH5 cause disease.

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