ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)

dbSNP: rs2144376499
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001928935 SCV002206495 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 50 of the KCNJ2 protein (p.Lys50Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KCNJ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1423577). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002484575 SCV002788358 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3; Atrial fibrillation, familial, 9 2021-10-12 criteria provided, single submitter clinical testing

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