Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Petrovsky National Research Centre of Surgery, |
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. |