SCN5A Variant Q1366H
Summary of observed carriers, functional annotations, and structural context for SCN5A Q1366H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/11 effective observations
Estimated BrS1 penetrance
13%
1/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -1.24 | 0.486 | 0.29 | 0.605 | 15 | 0 |
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 | 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.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 1727 | 13 | |
| 1391 | 15 | G1391R, G1391R, |
| 1366 | 0 | Q1366H, Q1366H, Q1366R, |
| 1381 | 13 | |
| 1396 | 9 | |
| 1362 | 13 | c.4083delG, R1362S, R1362S, |
| 1379 | 9 | |
| 1394 | 5 | Y1394X, |
| 1393 | 9 | L1393X, |
| 1378 | 6 | V1378M, |
| 1361 | 15 | |
| 1726 | 14 | |
| 1399 | 14 | |
| 1395 | 13 | |
| 1397 | 14 | c.4190delA, c.4189delT, |
| 1363 | 10 | C1363Y, |
| 1365 | 6 | N1365S, |
| 1380 | 12 | p.N1380del, N1380K, N1380K, |
| 1392 | 13 | |
| 1364 | 7 | I1364V, |
| 1367 | 5 | |
| 1398 | 14 | V1398M, |