KCNQ1 Variant R293C
Summary of observed carriers, functional annotations, and structural context for KCNQ1 R293C. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
53%
15/30 effective observations
Total carriers
20
10 LQT1 · 10 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -4.1 | 0.969 | -3 | 0.68 | 56 |
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 |
|---|---|---|---|---|---|
| 33876311 | 2021 | 1 | 0 | 1 | None |
| 32893267 | 2020 | 2 | None | 2 | None |
| 29197658 | 2018 | 5 | None | 5 | None |
| 28944242 | 2017 | None | None | None | None |
| 19716085 | 2009 | 4 | None | 4 | None |
| Literature, cohort, and gnomAD | – | 20 | 10 | 10 | – |
| Variant features alone | – | 15 | 5 | 5 | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Nearby variants
Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.