SCN5A Variant T1708I
Summary of observed carriers, functional annotations, and structural context for SCN5A T1708I. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
7%
0/11 effective observations
Estimated BrS1 penetrance
28%
3/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 3 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -5.45 | 1 | -1.15 | 0.895 | 42 | 5 |
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 | 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.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 1702 | 11 | |
| 1417 | 12 | |
| 1765 | 11 | |
| 396 | 14 | V396L, V396A, |
| 1757 | 11 | |
| 1715 | 15 | |
| 372 | 15 | |
| 1698 | 15 | A1698T, |
| 401 | 12 | S401P, |
| 1756 | 9 | I1756V, |
| 1764 | 8 | c.5290delG, V1764F, |
| 1666 | 13 | |
| 371 | 10 | Q371E, |
| 1711 | 8 | c.5131delG, |
| 1754 | 12 | |
| 1707 | 5 | |
| 1694 | 14 | |
| 1704 | 6 | L1704H, |
| 1706 | 7 | Q1706H, Q1706H, |
| 1716 | 12 | p.L1716SfsX71, |
| 1669 | 14 | |
| 1671 | 11 | |
| 1762 | 11 | p.I1762del, I1762M, |
| 1668 | 7 | M1668T, |
| 1692 | 14 | |
| 1753 | 13 | T1753A, |
| 1672 | 12 | S1672Y, |
| 1767 | 12 | Y1767C, |
| 1660 | 12 | I1660V, I1660S, |
| 378 | 12 | |
| 1699 | 15 | |
| 402 | 10 | F402L, F402L, F402L, |
| 1766 | 13 | M1766L, M1766V, M1766L, M1766T, |
| 1665 | 11 | |
| 373 | 14 | |
| 1768 | 14 | I1768V |
| 1712 | 10 | G1712S, G1712C, |
| 379 | 15 | |
| 1703 | 9 | |
| 1663 | 11 | |
| 399 | 15 | |
| 397 | 10 | I397V, I397F, I397T, |
| 1657 | 15 | |
| 1759 | 5 | S1759C, |
| 1662 | 14 | |
| 1709 | 4 | p.T1709del, T1709R, T1709M, |
| 1701 | 10 | M1701I, M1701I, M1701I, |
| 1758 | 10 | I1758V, p.I1758del, |
| 1755 | 6 | |
| 393 | 13 | |
| 1713 | 8 | |
| 390 | 13 | |
| 394 | 11 | |
| 1708 | 0 | T1708I, |
| 374 | 10 | W374G, |
| 1705 | 6 | |
| 1700 | 12 | |
| 1717 | 14 | L1717P, |
| 1763 | 9 | V1763M, V1763L, V1763L, |
| 1751 | 12 | |
| 1760 | 8 | |
| 370 | 15 | T370M, |
| 1752 | 11 | |
| 1670 | 13 | |
| 1661 | 11 | G1661R, G1661R, G1661E, |
| 1761 | 11 | c.5280delG, L1761F, L1761H, |
| 375 | 12 | |
| 368 | 14 | |
| 1710 | 7 | S1710L, |
| 398 | 11 | |
| 400 | 15 | G400R, G400R, G400E, G400A, |
| 1419 | 13 | K1419E, |
| 1667 | 9 | V1667I, |
| 1664 | 7 |