ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.1658T>C (p.Leu553Ser)

gnomAD frequency: 0.00001  dbSNP: rs1406117275
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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 RCV000636375 SCV000757814 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2019-05-21 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 553 of the KCNH5 protein (p.Leu553Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with KCNH5-related disease. This variant is not present in population databases (ExAC no frequency).

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