KCNQ1 Variant G306R
Summary of observed carriers, functional annotations, and structural context for KCNQ1 G306R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
74%
8/11 effective observations
Total carriers
1
1 LQT1 · unaffected
Functional studies
2
Publications with functional data
Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -7.78 | 0.999 | -3 | 0.972 | 79 |
PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. BLAST-PSSM reflects evolutionary conservation; more negative values indicate rarer substitutions. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
| Source | Year | Carriers | Unaffected | LQT1 | Other Disease |
|---|---|---|---|---|---|
| 32893267 | 2020 | 3 | None | 3 | None |
| 30758498 | 2019 | 2 | None | None | None |
| 24667783 | 2015 | 1 | None | 1 | None |
| 19716085 | 2009 | 1 | None | 1 | None |
| 19716085 | 2009 | 1 | None | 1 | None |
| 19490272 | 2009 | 2 | None | 2 | None |
| 17470695 | 2007 | 2 | None | 2 | None |
| 17192539 | 2006 | 1 | None | 1 | None |
| 14678125 | 2003 | 17 | None | 17 | None |
| 11351021 | 2001 | None | None | None | None |
| Literature, cohort, and gnomAD | – | 1 | 1 | – | |
| Variant features alone | – | 15 | 3 | 7 | – |
Totals may differ from individual publications due to duplicate patients removed during curation.