KCNQ1 Variant V307L

Summary of observed carriers, functional annotations, and structural context for KCNQ1 V307L. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

41%

4/11 effective observations

Total carriers

1

0 LQT1 · unaffected

Functional studies

2

Publications with functional data

V307L has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-2.92 0.798 0 0.863 65

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

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT1 Other Disease
30337886 2018 None None None None
28814790 2017 None None None None
20436212 2010 None None None None
17905416 2008 None None None None
15159330 2004 1 1 None 1 SQTS
Literature, cohort, and gnomAD – 1 0 –
Variant features alone – 15 6 4 –

Totals may differ from individual publications due to duplicate patients removed during curation.