SCN5A Variant L1634R
Summary of observed carriers, functional annotations, and structural context for SCN5A L1634R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
47%
2/10 effective observations
Estimated BrS1 penetrance
20%
1/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 2 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.986 | 20 | 62 |
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 | – | 0 | 0 | 0 | 0 | – | |
| Variant features alone | – | 15 | 12 | 2 | 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 |
|---|---|---|
| 403 | 14 | |
| 1643 | 9 | I1643L, |
| 404 | 15 | L404V, L404Q, |
| 1627 | 14 | |
| 1538 | 13 | |
| 1531 | 14 | |
| 1635 | 6 | |
| 1652 | 14 | M1652R, M1652T, |
| 1634 | 0 | L1634P, |
| 1542 | 14 | |
| 1650 | 11 | L1650F, |
| 260 | 10 | |
| 1641 | 13 | |
| 258 | 14 | V258A, |
| 1639 | 12 | G1639A, |
| 1654 | 13 | |
| 1648 | 11 | |
| 1630 | 8 | I1630V, I1630R, |
| 1532 | 14 | V1532F, V1532I, |
| 1649 | 12 | A1649V, |
| 1644 | 8 | R1644C, R1644H, R1644L, |
| 1640 | 11 | |
| 262 | 14 | S262G, |
| 256 | 9 | |
| 399 | 14 | |
| 1628 | 11 | |
| 1589 | 13 | |
| 1789 | 13 | |
| 1632 | 8 | R1632H, R1632L, R1632C, |
| 255 | 12 | |
| 1539 | 13 | C1539Y, C1539F |
| 1645 | 12 | T1645M, |
| 1535 | 11 | |
| 1788 | 15 | c.5361_5364delTGAG, |
| 1594 | 14 | F1594S, |
| 264 | 15 | |
| 1638 | 10 | R1638X, R1638Q, |
| 1651 | 9 | |
| 259 | 9 | |
| 1633 | 5 | |
| 1591 | 9 | W1591X, |
| 1595 | 15 | |
| 1637 | 6 | |
| 253 | 14 | |
| 1792 | 15 | D1792N, D1792Y, D1792V, |
| 1636 | 7 | |
| 263 | 12 | V263I, |
| 1629 | 13 | R1629X, R1629Q, R1629G, |
| 1642 | 12 | G1642E, |
| 1592 | 14 | |
| 1631 | 5 | G1631D, |
| 1590 | 12 | |
| 252 | 14 | |
| 1647 | 7 | |
| 257 | 13 | |
| 400 | 15 | G400A, G400R, G400E, G400R, |
| 1646 | 11 |