KCNQ1 Variant H614del

Summary of observed carriers, functional annotations, and structural context for KCNQ1 H614del. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

61%

6/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

H614del has not been reported in gnomAD. This residue resides in a NA region for LQT1.

Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
86

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 – 1 0 1 –
Variant features alone – 15 5 5 –

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 H614del.
Neighbour residue Distance (Å) Observed variants
614 0 H614del,
613 4
615 4
612 5
616 5
611 7 D611N, D611Y,
617 7
610 8
618 8
609 8
619 8 L619M,
608 9
620 9
607 10 A607T,
621 10 G621S, G621C, G621D,
606 11
622 11 G622S,
605 11
623 11
604 12
624 12
603 13
625 13 P625R
602 13
626 13 G626S,
601 14
627 14
600 14 T600M,
628 14 G628S, G628D,
599 15
629 15 G629S,