ClinVar Miner

Submissions for variant NM_000219.6(KCNE1):c.179G>A (p.Gly60Asp)

gnomAD frequency: 0.00001  dbSNP: rs758961135
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059728 SCV001224370 uncertain significance Long QT syndrome 2023-05-18 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. Experimental studies have shown that this missense change affects KCNE1 function (PMID: 22471742). 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 KCNE1 protein function. ClinVar contains an entry for this variant (Variation ID: 854638). This missense change has been observed in individual(s) with KCNE1-related disease (PMID: 22471742, 24606995; Invitae). This variant is present in population databases (rs758961135, gnomAD 0.002%). This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 60 of the KCNE1 protein (p.Gly60Asp).
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258144 SCV001435032 uncertain significance Jervell and Lange-Nielsen syndrome 2; Long QT syndrome 5 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV002223978 SCV002503185 uncertain significance not provided 2021-12-27 criteria provided, single submitter clinical testing

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