SCN5A Variant S1710L
Summary of observed carriers, functional annotations, and structural context for SCN5A S1710L. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/18 effective observations
Estimated BrS1 penetrance
34%
6/18 effective observations
Total carriers
8
2 BrS1 · 0 LQT3 · 6 unaffected
Variant features alone are equivalent to phenotyping 4 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -5.55 | 1 | -4.78 | 0.958 | 56 | 4 |
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 |
|---|---|---|---|---|---|---|---|
| 19026623 | 2009 | 1 | 0 | 1 | 0 | ||
| 26798387 | 2016 | 5 | 0 | 0 | 3 | SSS | |
| 10940383 | 2000 | 1 | 0 | 1 | 0 | ||
| 30059973 | 2018 | 4 | 4 | 0 | 0 | ||
| Literature, cohort, and gnomAD | – | 8 | 6 | 0 | 2 | – | |
| Variant features alone | – | 15 | 11 | 0 | 4 | – | – |
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.
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 | 15 | |
| 896 | 13 | C896S, C896S, |
| 1417 | 6 | |
| 1765 | 12 | |
| 1757 | 12 | |
| 1715 | 12 | |
| 1687 | 15 | |
| 1413 | 11 | |
| 372 | 11 | |
| 401 | 13 | S401P, |
| 1756 | 8 | I1756V, |
| 1764 | 10 | c.5290delG, V1764F, |
| 371 | 8 | Q371E, |
| 1711 | 4 | c.5131delG, |
| 1754 | 13 | |
| 1707 | 7 | |
| 1411 | 15 | |
| 1704 | 11 | L1704H, |
| 1458 | 12 | S1458Y, |
| 1410 | 15 | |
| 1706 | 8 | Q1706H, Q1706H, |
| 1716 | 11 | p.L1716SfsX71, |
| 1714 | 11 | D1714G, |
| 376 | 14 | R376C, R376H, |
| 897 | 11 | G897R, G897R, G897E, |
| 1762 | 13 | p.I1762del, I1762M, |
| 1668 | 14 | M1668T, |
| 1753 | 12 | T1753A, |
| 1422 | 15 | M1422R, |
| 378 | 13 | |
| 1418 | 9 | |
| 402 | 12 | F402L, F402L, F402L, |
| 373 | 10 | |
| 1768 | 15 | I1768V |
| 1712 | 7 | G1712S, G1712C, |
| 379 | 14 | |
| 1703 | 12 | |
| 898 | 11 | |
| 893 | 15 | R893C, R893H, |
| 397 | 12 | I397V, I397F, I397T, |
| 405 | 15 | |
| 1462 | 11 | |
| 1759 | 9 | S1759C, |
| 1709 | 4 | p.T1709del, T1709R, T1709M, |
| 1420 | 11 | G1420R, G1420D, G1420V, G1420P, |
| 1758 | 12 | I1758V, p.I1758del, |
| 1755 | 9 | |
| 393 | 15 | |
| 1713 | 5 | |
| 1708 | 7 | T1708I, |
| 1421 | 12 | |
| 374 | 9 | W374G, |
| 1705 | 11 | |
| 1717 | 12 | L1717P, |
| 367 | 14 | R367C, R367H, R367L, |
| 1763 | 13 | V1763M, V1763L, V1763L, |
| 1751 | 14 | |
| 1416 | 10 | c.4245+1G>A, c.4245+1G>C, c.4245+2T>A, A1416E, A1416G, |
| 1465 | 14 | p.F1465_L1480dup, |
| 1760 | 6 | |
| 370 | 12 | T370M, |
| 1752 | 10 | |
| 1761 | 10 | c.5280delG, L1761F, L1761H, |
| 375 | 9 | |
| 368 | 13 | |
| 1710 | 0 | S1710L, |
| 1415 | 12 | |
| 377 | 15 | |
| 1419 | 6 | K1419E, |
| 1667 | 15 | V1667I, |
| 1414 | 9 | Q1414H, Q1414H, |
| 1664 | 13 | |
| 1463 | 14 | N1463Y, |