SCN5A Variant E429G

Summary of observed carriers, functional annotations, and structural context for SCN5A E429G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

12%

0/10 effective observations

Estimated BrS1 penetrance

12%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

E429G has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Mild_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
NA NA NA 0.483 10 14

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. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT3 BrS1 Other Other Disease
Literature, cohort, and gnomAD – 0 0 0 0 –
Variant features alone – 15 14 0 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 E429G.
Neighbour residue Distance (Å) Observed variants
414 15 M414V,
415 14 A415T,
416 14 Y416C,
417 13
418 13 E418K,
419 12 Q419X,
420 11
421 11
422 10
423 9
424 8 I424M,
425 8 A425P, A425T,
426 7
427 5
428 4 E428K,
429 0 E429K, p.E429del,
430 4 K430E,
431 5
432 7
433 8 R433H, R433C, R433S,
434 8
435 9
436 10
437 11 A437V,
438 11 M438L, M438L, M438T,
439 12 E439K, E439V,
440 13
441 13 L441F,
442 14
443 14
444 15 E444fsX14,