ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.74G>C (p.Arg25Pro)

dbSNP: rs1589884210
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000845349 SCV000987397 uncertain significance Conduction disorder of the heart criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001858456 SCV002306164 uncertain significance Long QT syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces arginine with proline at codon 25 of the KCNQ1 protein (p.Arg25Pro). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and proline. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. ClinVar contains an entry for this variant (Variation ID: 684795). 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. 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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