SCN5A Variant K430N

Summary of observed carriers, functional annotations, and structural context for SCN5A K430N. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

7%

0/10 effective observations

Estimated BrS1 penetrance

36%

3/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

K430N has not been reported in gnomAD. This residue resides in a Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 3 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 0.67 51 7

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 12 0 3 – –

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 K430N.
Neighbour residue Distance (Å) Observed variants
415 15 A415T,
416 14 Y416C,
417 14
418 13 E418K,
419 13 Q419X,
420 12
421 11
422 11
423 10
424 9 I424M,
425 8 A425T, A425P,
426 8
427 7
428 5 E428K,
429 4 E429K, p.E429del,
430 0 K430E,
431 4
432 5
433 7 R433S, R433C, R433H,
434 8
435 8
436 9
437 10 A437V,
438 11 M438L, M438L, M438T,
439 11 E439K, E439V,
440 12
441 13 L441F,
442 13
443 14
444 14 E444fsX14,
445 15 H445D, H445Y, H445Q, H445Q