ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.656G>A (p.Gly219Glu)

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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 RCV003863353 SCV004665623 uncertain significance Long QT syndrome 2023-04-19 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt KCNQ1 protein function. This missense change has been observed in individual(s) with autosomal dominant long QT syndrome (PMID: 33466149). This variant is present in population databases (rs767472291, gnomAD 0.006%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 219 of the KCNQ1 protein (p.Gly219Glu).

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