KCNQ1 Variant D582H

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D582H. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

45%

4/10 effective observations

Total carriers

0

0 LQT1 · unaffected

Functional studies

0

Publications with functional data

D582H 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 (%)
-3.0 0.992 -1 0.803 47

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
Literature, cohort, and gnomAD – 0 0 –
Variant features alone – 15 6 4 –

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