SCN5A Variant M1668T
Summary of observed carriers, functional annotations, and structural context for SCN5A M1668T. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
6%
0/11 effective observations
Estimated BrS1 penetrance
11%
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 (%) |
---|---|---|---|---|---|
-5.52 | 1 | -1.5 | 0.95 | 6 | 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 | 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 |
---|---|---|
1702 | 9 | |
1659 | 15 | |
387 | 14 | |
1304 | 15 | T1304M, |
1757 | 14 | |
391 | 14 | |
1698 | 10 | A1698T, |
1756 | 13 | I1756V, |
1314 | 14 | c.3940_3941delCT, |
1220 | 14 | G1220E, |
1673 | 10 | |
1675 | 11 | |
1764 | 12 | V1764F, c.5290delG, |
1666 | 7 | |
1711 | 13 | c.5131delG, |
1754 | 13 | |
1707 | 9 | |
1694 | 12 | |
1704 | 5 | L1704H, |
1706 | 11 | Q1706H, Q1706H, |
1716 | 14 | p.L1716SfsX71, |
1669 | 7 | |
1671 | 7 | |
1762 | 14 | p.I1762del, I1762M, |
1668 | 0 | M1668T, |
1676 | 12 | M1676I, M1676T, M1676I, M1676I, |
1692 | 14 | |
1219 | 14 | S1219N, |
1672 | 7 | S1672Y, |
1767 | 15 | Y1767C, |
1660 | 12 | I1660V, I1660S, |
1693 | 14 | |
1699 | 12 | |
378 | 13 | |
1310 | 14 | |
402 | 14 | F402L, F402L, F402L, |
1665 | 5 | |
1703 | 9 | |
1663 | 9 | |
397 | 14 | I397T, I397F, I397V, |
1759 | 9 | S1759C, |
1662 | 10 | |
1709 | 11 | T1709M, T1709R, p.T1709del, |
1701 | 5 | M1701I, M1701I, M1701I, |
1307 | 12 | |
1758 | 11 | p.I1758del, I1758V, |
1223 | 12 | c.3667delG, |
1755 | 8 | |
1697 | 11 | |
1222 | 15 | L1222R, p.L1222LfsX7, |
393 | 15 | |
1674 | 12 | F1674V, |
1713 | 14 | |
394 | 11 | |
390 | 11 | |
1708 | 7 | T1708I, |
1696 | 13 | |
374 | 15 | W374G, |
1705 | 6 | |
1700 | 8 | |
1763 | 11 | V1763M, V1763L, V1763L, |
1751 | 11 | |
1311 | 13 | L1311P, |
1308 | 14 | L1308F, |
1760 | 14 | |
1752 | 12 | |
1670 | 7 | |
1661 | 9 | G1661R, G1661R, G1661E, |
1710 | 14 | S1710L, |
1679 | 14 | |
398 | 12 | |
1667 | 5 | V1667I, |
1664 | 6 |