ClinVar Miner

Submissions for variant NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser)

gnomAD frequency: 0.00008  dbSNP: rs147070381
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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 RCV000704864 SCV000833835 uncertain significance Long QT syndrome 2024-03-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 179 of the KCNJ5 protein (p.Asn179Ser). This variant is present in population databases (rs147070381, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of KCNJ5-related conditions (PMID: 27707468). ClinVar contains an entry for this variant (Variation ID: 581128). 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 KCNJ5 protein function with a negative predictive value of 80%. 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 RCV002343558 SCV002646448 likely benign Cardiovascular phenotype 2023-09-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV002469269 SCV002765641 uncertain significance not provided 2022-11-25 criteria provided, single submitter clinical testing Reported in association with Brugada syndrome in published literature (Huang et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28032242)

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