SCN5A Variant V469I
Summary of observed carriers, functional annotations, and structural context for SCN5A V469I. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/11 effective observations
Estimated BrS1 penetrance
5%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -0.86 | 0.568 | 0.12 | 0.26 | 4 | 1 |
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
| Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
|---|---|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 1 | 1 | 0 | 0 | – | |
| Variant features alone | – | 15 | 15 | 0 | 0 | – | – |
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.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 454 | 15 | |
| 455 | 14 | |
| 456 | 14 | V456M, |
| 457 | 13 | |
| 458 | 13 | R458C, p.R458VfsX12, R458H, |
| 459 | 12 | S459G, |
| 460 | 11 | |
| 461 | 11 | L461V, |
| 462 | 10 | E462A, E462K, |
| 463 | 9 | M463R, M463T, |
| 464 | 8 | |
| 465 | 8 | p.P465LfsX5, |
| 466 | 7 | L466F, L466F, |
| 467 | 5 | |
| 468 | 4 | P468L, |
| 469 | 0 | V469I, |
| 470 | 4 | N470K, N470K, |
| 471 | 5 | |
| 472 | 7 | |
| 473 | 8 | E473X, |
| 474 | 8 | R474G, R474K, |
| 475 | 9 | R475S, R475K, R475S, |
| 476 | 10 | |
| 477 | 11 | c.1428_1431delCAAG, |
| 478 | 11 | |
| 479 | 12 | |
| 480 | 13 | K480N, K480N, |
| 481 | 13 | R481Q, R481W, |
| 482 | 14 | M482I, M482I, M482I |
| 483 | 14 | |
| 484 | 15 |