ClinVar Miner

Submissions for variant NM_000891.3(KCNJ2):c.665T>C (p.Leu222Ser)

dbSNP: rs1555603968
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657962 SCV000779733 likely pathogenic not provided 2018-05-16 criteria provided, single submitter clinical testing A variant that is likely pathogenic was identified in the KCNJ2 gene. The L222S variant has been reported in a patient with ATS who had a history of syncope and prolonged QT interval (Rezazadeh et al., 2016). This variant is not observed in large population cohorts (Lek et al., 2016). The L222S variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. Finally, one functional study demonstrated that this variant leads to a reduction of current densities (Rezazadeh et al., 2016). In summary, L222S in the KCNJ2 gene is interpreted as a likely pathogenic variant.
GeneReviews RCV002291286 SCV002583831 not provided Andersen Tawil syndrome no assertion provided literature only

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