ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.2030G>T (p.Arg677Leu)

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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 RCV002616461 SCV003509379 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-04-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCNH5-related conditions. 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 2190576). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 677 of the KCNH5 protein (p.Arg677Leu).

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