KCNQ1 Variant G622S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G622S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

14%

1/13 effective observations

Total carriers

3

0 LQT1 · 3 unaffected

Functional studies

0

Publications with functional data

G622S is present in 3 alleles in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-0.12 0.32 1 0.591 18

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 – 3 3 0 –
Variant features alone – 15 9 1 –

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.

Previously observed variants near G622S.
Neighbour residue Distance (Å) Observed variants
622 0 G622S,
621 4 G621S, G621C, G621D,
623 4
620 5
624 5
619 7 L619M,
625 7 P625R,
618 8
626 8 G626S,
617 8
627 8
616 9
628 9 G628S, G628D,
615 10
629 10 G629S,
614 11 H614del,
630 11 P630S, P630T
613 11
631 11 P631R,
612 12
632 12
611 13 D611N, D611Y,
633 13
610 13
634 13
609 14
635 14 G635R, G635R,
608 14
636 14
607 15 A607T,
637 15