ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.553C>T (p.Leu185Phe)

dbSNP: rs780855852
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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 RCV001944525 SCV002132682 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-07-06 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with KCNH5-related conditions. This variant is present in population databases (rs780855852, ExAC 0.002%). This sequence change replaces leucine with phenylalanine at codon 185 of the KCNH5 protein (p.Leu185Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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