ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.259A>G (p.Ile87Val)

dbSNP: rs748958117
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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 RCV000812716 SCV000953039 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2023-09-21 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 not expected to disrupt KCNJ2 protein function. ClinVar contains an entry for this variant (Variation ID: 656328). This variant has not been reported in the literature in individuals affected with KCNJ2-related conditions. This variant is present in population databases (rs748958117, gnomAD 0.003%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 87 of the KCNJ2 protein (p.Ile87Val).

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