ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1264A>G (p.Lys422Glu)

dbSNP: rs1589969375
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations RCV001003370 SCV001161443 uncertain significance Long QT syndrome 1 2020-02-03 criteria provided, single submitter clinical testing The c.1264A>G variant in KCNQ1 is a novel missense substitution that has been found in patient with LQT syndrome. The variant is absent from large population studies (gnomAD no frequency). There are known 2 substitutions at same AA position (Lys422)(rs199472778) with no classification provided. Computational evaluation was done with CardioClassifier and it shows controversial results: SIFT - Tolerated, MutationTaster - Disease-causing, MutationAssessor - Medium impact, Polyphen-VAR - Benign , LRT - Deleterious, FATHMM - Deleterious, Grantham - Moderately conservative, CADD - 19.77. Based on this evidences the c.1264A>G(p.Lys422Glu) variant is classified as Variant with Uncertain Significance.

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