ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg)

gnomAD frequency: 0.00009  dbSNP: rs148307402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001089531 SCV001244885 uncertain significance Long QT syndrome 13 2019-09-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001305759 SCV001495106 uncertain significance Long QT syndrome 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 384 of the KCNJ5 protein (p.Pro384Arg). This variant is present in population databases (rs148307402, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with KCNJ5-related conditions. ClinVar contains an entry for this variant (Variation ID: 869438). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt KCNJ5 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002355107 SCV002624139 uncertain significance Cardiovascular phenotype 2021-10-22 criteria provided, single submitter clinical testing The p.P384R variant (also known as c.1151C>G), located in coding exon 2 of the KCNJ5 gene, results from a C to G substitution at nucleotide position 1151. The proline at codon 384 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005047299 SCV005676502 uncertain significance Long QT syndrome 13; Familial hyperaldosteronism type III 2024-01-02 criteria provided, single submitter clinical testing

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