ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.68C>T (p.Ser23Phe)

dbSNP: rs2139638415
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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 RCV002028761 SCV002290264 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2021-05-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with KCNH5-related conditions. This sequence change replaces serine with phenylalanine at codon 23 of the KCNH5 protein (p.Ser23Phe). The serine residue is highly conserved and there is a large physicochemical difference between serine and phenylalanine. This variant is not present in population databases (ExAC no frequency). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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