KCNQ1 Variant G568E

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G568E. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

83%

9/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

G568E has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 8 individuals with LQT1 and 2 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-7.01 1.0 -3 0.943 92

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
27041096 2016 1 None 1 None
Literature, cohort, and gnomAD – 1 0 1 –
Variant features alone – 15 2 8 –

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 G568E.
Neighbour residue Distance (Å) Observed variants
568 0 G568R, G568R, G568E,
567 4 I567T, I567S,
569 4 K569E,
566 5 S566F, S566Y, S566P,
570 5 P570L,
565 7
571 7 S571L, S571P,
564 8 D564H, D564N,
572 8
563 8
573 8 F573L, F573L, F573L,
562 9 R562M, R562S, R562S,
574 9 I574V,
561 10
575 10
560 11
576 11 V576I,
559 11 L559P,
577 11
558 12
578 12 E578K, E578V,
557 13 K557E,
579 13
556 13
580 13 S580G, S580N
555 14 R555H, R555C, R555S, R555L,
581 14
554 14
582 14
553 15
583 15 R583H, R583C, R583G,