KCNQ1 Variant G272V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G272V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

63%

7/12 effective observations

Total carriers

2

2 LQT1 · 0 unaffected

Functional studies

1

Publications with functional data

G272V has not been reported in gnomAD. This residue resides in a Hotspot 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 (%)
-8.22 0.425 1 0.816 62

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
32893267 2020 1 None 1 None
30758498 2019 3 None 2 None
26715165 2016 1 None 1 None
20975234 2010 1 None 1 None
Literature, cohort, and gnomAD – 2 0 2 –
Variant features alone – 15 5 5 –

Totals may differ from individual publications due to duplicate patients removed during curation.

Functional data

Functional assay results from published electrophysiology studies. HM indicates homomeric channels, HT indicates heteromeric channels.

Homomeric channel data

Published electrophysiology measurements (homomeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

Heteromeric channel data

Published electrophysiology measurements (heteromeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

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 G272V.
Neighbour residue Distance (Å) Observed variants
272 0 G272D, G272S, G272V,
273 4 L273F, L273V, L273R,
271 5
269 5 G269D, G269S, G269del,
274 5 I274V,
275 5 F275del,
276 6 S276del,
268 7 I268V, I268S,
277 8 S277L, S277del, S277P, S277W,
339 8 F339del, F339S,
267 9 Y267C
279 9 F279I,
235 9 I235N,
278 10 Y278H,
238 10 M238V, M238L, M238L,
303 10 L303P,
239 10
280 12 V280A, V280E,
236 12 L236Q, L236R,
335 12 F335L, F335L, F335L,
248 12 W248C, W248C, W248R, W248R,
336 12 A336S,
332 12
302 12 A302V, A302E, A302T,
270 12 F270S,
232 12
333 12
299 12
334 12 V334A,
340 13 F340del, F340L, F340L, F340L, F340S,
310 13 V310I,
251 13 L251P, L251Q,
307 13 V307L, V307L,
264 13
337 13
331 13
330 13
311 14 T311A, T311I,
247 14 T247I,
137 14 L137F, L137P,
305 14 W305S, W305L, W305C, W305C, W305R, W305R,
266 14 L266P,
338 14 S338F,
329 14 A329T,
306 14 G306V, G306R, G306R,
242 14 D242N, D242Y,
282 15 L282P,
325 15 G325R, G325R, G325E, G325W,
234 15 Q234H, Q234H,
300 15 A300T, A300S,
328 15 I328del,
241 15 V241F, V241I, V241G,