KCNQ1 Variant R670K

Summary of observed carriers, functional annotations, and structural context for KCNQ1 R670K. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

5%

0/17 effective observations

Total carriers

7

0 LQT1 · unaffected

Functional studies

0

Publications with functional data

R670K is present in 4 alleles in gnomAD. This residue resides in a Non_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 0 individuals with LQT1 and 10 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
0.09 0.0 2 0.82 0

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
32164657 2020 1 1 None AF
25786344 2015 1 1 None None
24144883 2014 1 1 None Early onset AF
Literature, cohort, and gnomAD – 7 0 –
Variant features alone – 15 10 0 –

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