ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.622G>A (p.Glu208Lys)

dbSNP: rs1300618190
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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 RCV002050893 SCV002116891 uncertain significance Long QT syndrome 2023-07-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 208 of the KCNH2 protein (p.Glu208Lys). ClinVar contains an entry for this variant (Variation ID: 1348701). 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 tolerated.

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