KCNQ1 Variant D611Y
Summary of observed carriers, functional annotations, and structural context for KCNQ1 D611Y. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
29%
8/29 effective observations
Total carriers
19
7 LQT1 · unaffected
Functional studies
1
Publications with functional data
Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -0.31 | 0.184 | -3 | 0.688 | 26 |
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 | 2 | None | 2 | None |
| 30758498 | 2019 | 19 | None | 5 | None |
| 23153844 | 2012 | 10 | None | 1 | None |
| 17470695 | 2007 | 10 | None | 10 | None |
| 15500450 | 2005 | 11 | 8 | 3 | None |
| 12808265 | 2003 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 19 | 7 | – | |
| Variant features alone | – | 15 | 9 | 1 | – |
Totals may differ from individual publications due to duplicate patients removed during curation.