SCN5A Variant Q1706H
Summary of observed carriers, functional annotations, and structural context for SCN5A Q1706H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/11 effective observations
Estimated BrS1 penetrance
55%
6/11 effective observations
Total carriers
1
1 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 5 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -4.39 | 0.999 | -2.35 | 0.9 | 77 | 3 |
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 |
|---|---|---|---|---|---|---|---|
| 21321465 | 2011 | 1 | 0 | 1 | 0 | ||
| Literature, cohort, and gnomAD | – | 1 | 0 | 0 | 1 | – | |
| Variant features alone | – | 15 | 10 | 0 | 5 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Functional data
Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.
| PubMed ID | Year | Cell Type | Peak Current (% WT) | V1/2 Activation (mV) | V1/2 Inactivation (mV) | Late/Persistent Current (% WT) |
|---|---|---|---|---|---|---|
| 21321465 | 2011 |
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 |
|---|---|---|
| 1702 | 7 | |
| 387 | 14 | |
| 1417 | 14 | |
| 396 | 14 | V396L, V396A, |
| 1715 | 10 | |
| 1687 | 10 | |
| 391 | 14 | |
| 372 | 12 | |
| 1698 | 12 | A1698T, |
| 401 | 15 | S401P, |
| 1756 | 13 | I1756V, |
| 1764 | 14 | c.5290delG, V1764F |
| 371 | 10 | Q371E, |
| 1711 | 5 | c.5131delG, |
| 1707 | 5 | |
| 1694 | 12 | |
| 1704 | 7 | L1704H, |
| 1706 | 0 | Q1706H, Q1706H, |
| 376 | 11 | R376C, R376H, |
| 1716 | 8 | p.L1716SfsX71, |
| 1714 | 12 | D1714G, |
| 1688 | 11 | |
| 1671 | 14 | |
| 1668 | 11 | M1668T, |
| 1692 | 8 | |
| 386 | 14 | G386R, G386R, G386E, |
| 1672 | 13 | S1672Y, |
| 1693 | 12 | |
| 378 | 6 | |
| 1699 | 11 | |
| 402 | 14 | F402L, F402L, F402L, |
| 373 | 10 | |
| 1712 | 6 | G1712S, G1712C, |
| 379 | 7 | |
| 1703 | 5 | |
| 397 | 11 | I397V, I397F, I397T, |
| 1759 | 12 | S1759C, |
| 1719 | 14 | |
| 1709 | 7 | p.T1709del, T1709R, T1709M, |
| 1701 | 10 | M1701I, M1701I, M1701I, |
| 1420 | 14 | G1420R, G1420D, G1420V, G1420P, |
| 392 | 14 | |
| 1755 | 11 | |
| 393 | 10 | |
| 1713 | 8 | |
| 390 | 11 | |
| 394 | 12 | |
| 383 | 14 | |
| 1708 | 7 | T1708I, |
| 382 | 11 | |
| 1718 | 15 | S1718R, S1718R, S1718R, |
| 374 | 6 | W374G, |
| 1705 | 6 | |
| 1689 | 12 | D1689N, |
| 1700 | 10 | |
| 1717 | 12 | L1717P, |
| 367 | 13 | R367C, R367H, R367L, |
| 1751 | 14 | |
| 1760 | 13 | |
| 370 | 14 | T370M, |
| 1752 | 11 | |
| 381 | 12 | c.1140+1G>A, c.1141-3C>A, |
| 1686 | 13 | |
| 375 | 6 | |
| 1691 | 12 | |
| 368 | 12 | |
| 1710 | 8 | S1710L, |
| 380 | 12 | |
| 1720 | 15 | c.5157delC, |
| 377 | 10 | |
| 1679 | 15 | |
| 398 | 14 | |
| 1419 | 11 | K1419E, |
| 1667 | 14 | V1667I, |
| 1414 | 15 | Q1414H, Q1414H, |
| 1664 | 13 |