ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met)

gnomAD frequency: 0.00003  dbSNP: rs759070406
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000619357 SCV000736271 uncertain significance Cardiovascular phenotype 2022-04-14 criteria provided, single submitter clinical testing The p.T402M variant (also known as c.1205C>T), located in coding exon 1 of the KCNJ2 gene, results from a C to T substitution at nucleotide position 1205. The threonine at codon 402 is replaced by methionine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species, and methionine is the reference amino acid in other 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 variant remains unclear.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000627126 SCV000747930 uncertain significance not specified 2017-04-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000698640 SCV000827320 uncertain significance Andersen Tawil syndrome; Short QT syndrome type 3 2023-11-27 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 402 of the KCNJ2 protein (p.Thr402Met). This variant is present in population databases (rs759070406, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with KCNJ2-related conditions. ClinVar contains an entry for this variant (Variation ID: 518798). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.

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