ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val)

gnomAD frequency: 0.00001  dbSNP: rs1389181295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001955706 SCV002220093 uncertain significance Long QT syndrome 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 197 of the KCNJ5 protein (p.Ala197Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with KCNJ5-related conditions. 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 KCNJ5 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.
Ambry Genetics RCV003303471 SCV003992286 uncertain significance Cardiovascular phenotype 2023-03-27 criteria provided, single submitter clinical testing The p.A197V variant (also known as c.590C>T), located in coding exon 1 of the KCNJ5 gene, results from a C to T substitution at nucleotide position 590. The alanine at codon 197 is replaced by valine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003490964 SCV004241198 uncertain significance not specified 2023-12-17 criteria provided, single submitter clinical testing

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