KCNQ1 Variant G297D

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G297D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

17%

1/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

G297D is present in 1 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 (%)
-1.38 0.113 3 0.6 19

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 1 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 G297D.
Neighbour residue Distance (Å) Observed variants
297 0 G297S, G297D, G297R,
298 3 S298I, S298N,
294 5 V294M,
296 6 F296S, F296L, F296L, F296L,
301 6
281 6 Y281C
285 7
144 8 T144A,
300 8 A300T, A300S,
302 8 A302V, A302E, A302T,
145 8
299 9
293 9 R293C, R293H,
286 9
318 9
146 10 E146K, E146G, E146Q,
280 10 V280A, V280E,
141 11 V141M,
303 11 L303P,
283 11 A283G, A283T,
143 11 S143F, S143P, S143Y,
282 12 L282P,
277 12 S277L, S277del, S277P, S277W,
231 12 R231C, R231H, R231S,
292 12 G292D,
147 12 Q147R,
305 12 W305S, W305L, W305C, W305C, W305R, W305R,
142 13
140 13 S140G, S140R, S140R, S140R,
278 13 Y278H,
148 13
228 14
227 14
149 14
306 14 G306V, G306R, G306R,
321 14
279 15 F279I,