ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg)

gnomAD frequency: 0.00001  dbSNP: rs145901904
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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 RCV001966490 SCV002257469 likely pathogenic Long QT syndrome 2021-03-23 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Thr158 amino acid residue in KCNJ5. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 21311022, 22315453, 24574546, 27099398). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This variant has not been reported in the literature in individuals with KCNJ5-related conditions. This variant is present in population databases (rs145901904, ExAC 0.01%). This sequence change replaces threonine with arginine at codon 158 of the KCNJ5 protein (p.Thr158Arg). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and arginine.

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