KCNQ1 Variant D597G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D597G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

72%

7/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

D597G has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

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

In silico predictors

Variant-level computational predictors.
PROVEAN	PolyPhen-2	BLAST-PSSM	REVEL	Penetrance Density LQT1 (%)
-2.39	0.242	-2	0.793	76

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	0	–
Variant features alone	–	15	3	7	–

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 D597G.
Neighbour residue	Distance (Å)	Observed variants
597	0
596	4	E596del, E596K,
598	4	K598R,
595	5	V595L, V595L
599	5
594	7	R594Q, R594P,
600	7	T600M,
593	8	N593S,
601	8
592	8
602	8
591	9	R591H, R591C, R591L,
603	9
590	10	A590T,
604	10
589	11	G589D, G589S,
605	11
588	11	I588F,
606	11
587	12	T587M, T587R,
607	12	A607T,
586	13	N586D,
608	13
585	13	S585N,
609	13
584	14	G584S,
610	14
583	14	R583H, R583C, R583G,
611	14	D611N, D611Y,
582	15
612	15