ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.434A>G (p.Tyr145Cys)

dbSNP: rs2074387117
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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 RCV001064131 SCV001229010 likely pathogenic Andersen Tawil syndrome; Short QT syndrome type 3 2022-07-26 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 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. Experimental studies have shown that this missense change affects KCNJ2 function (PMID: 29017447). ClinVar contains an entry for this variant (Variation ID: 858285). This missense change has been observed in individual(s) with Andersen-Tawil syndrome (PMID: 26322597, 29017447). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 145 of the KCNJ2 protein (p.Tyr145Cys).

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