KCNQ1 Variant G306V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G306V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

79%

11/14 effective observations

Total carriers

4

4 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

G306V 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 (%)
-8.76 1.0 0 0.878 79

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
26496715 2016 3 None 3 None
14527360 2003 1 None 1 None
Literature, cohort, and gnomAD – 4 0 4 –
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 G306V.
Neighbour residue Distance (Å) Observed variants
277 6 S277L, S277del, S277P, S277W,
302 6 A302V, A302E, A302T,
274 9 I274V,
272 9 G272D, G272S, G272V,
333 10
300 10 A300T, A300S,
329 10 A329T,
299 10
296 10 F296S, F296L, F296L, F296L,
273 11 L273F, L273V, L273R,
276 11 S276del,
269 11 G269D, G269S, G269del,
330 11
275 12 F275del,
279 12 F279I,
336 12 A336S,
320 12 P320H, P320A, P320S,
280 12 V280A, V280E,
278 12 Y278H,
332 12
319 12 V319L, V319L,
304 12 W304R, W304R,
281 12 Y281C,
307 12 V307L, V307L,
271 12
334 12 V334A,
306 13 G306V, G306R, G306R,
328 13 I328del,
298 13 S298I, S298N,
325 13 G325R, G325R, G325E, G325W,
326 13
331 13
310 13 V310I,
335 14 F335L, F335L, F335L,
305 14 W305S, W305L, W305C, W305C, W305R, W305R,
313 14
314 14 G314S, G314D, G314C, G314del,
327 14 T327A, T327S, T327S,
297 14 G297S, G297D, G297R,
312 14 T312del, T312I,
282 14 L282P,
141 15 V141M,
266 15 L266P,
235 15 I235N,
315 15 Y315C, Y315S, Y315N, Y315H, Y315F
338 15 S338F,
268 15 I268V, I268S,
284 15 E284K,