KCNQ1 Variant L342F
Summary of observed carriers, functional annotations, and structural context for KCNQ1 L342F. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
85%
13/16 effective observations
Total carriers
6
6 LQT1 · unaffected
Functional studies
1
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 (%) |
|---|---|---|---|---|
| -3.66 | 1.0 | 1 | 0.876 | 85 |
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 |
| 32893267 | 2020 | 1 | None | 1 | None |
| 27041096 | 2016 | 1 | None | 1 | None |
| 24217263 | 2013 | 1 | None | 1 | None |
| 19716085 | 2009 | 2 | None | 2 | None |
| 18752142 | 2008 | 4 | None | 1 | RWS |
| 17192539 | 2006 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 6 | 6 | – | |
| Variant features alone | – | 15 | 3 | 7 | – |
Totals may differ from individual publications due to duplicate patients removed during curation.