KCNQ1 Variant G584S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G584S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

16%

3/21 effective observations

Total carriers

11

0 LQT1 · unaffected

Functional studies

0

Publications with functional data

G584S is present in 11 alleles in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 3 individuals with LQT1 and 7 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-0.86 0.774 0 0.733 33

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
27114410 2016 1 None None None
22677073 2012 1 None None SUDS
17222736 2007 1 None None None
Literature, cohort, and gnomAD – 11 0 –
Variant features alone – 15 7 3 –

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