ClinVar Miner

Submissions for variant NM_000238.4(KCNH2):c.988A>G (p.Ile330Val)

dbSNP: rs1216093762
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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 RCV002012405 SCV002286692 uncertain significance Long QT syndrome 2021-12-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 330 of the KCNH2 protein (p.Ile330Val). 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 tolerated. This variant has not been reported in the literature in individuals affected with KCNH2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%).

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