ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser)

gnomAD frequency: 0.00001  dbSNP: rs1236228202
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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 RCV002020844 SCV002306099 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2022-05-31 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. ClinVar contains an entry for this variant (Variation ID: 1515095). This variant has not been reported in the literature in individuals affected with KCNJ2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 159 of the KCNJ2 protein (p.Phe159Ser).
Ambry Genetics RCV002331629 SCV002633728 uncertain significance Cardiovascular phenotype 2021-04-05 criteria provided, single submitter clinical testing The p.F159S variant (also known as c.476T>C), located in coding exon 1 of the KCNJ2 gene, results from a T to C substitution at nucleotide position 476. The phenylalanine at codon 159 is replaced by serine, an amino acid with highly dissimilar 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.
Breakthrough Genomics, Breakthrough Genomics RCV004694144 SCV005193049 uncertain significance not provided criteria provided, single submitter not provided

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