SCN5A Variant V1323G
Summary of observed carriers, functional annotations, and structural context for SCN5A V1323G. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
14%
0/11 effective observations
Estimated BrS1 penetrance
53%
5/11 effective observations
Total carriers
1
1 BrS1 · 0 LQT3 · 0 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 (%) |
|---|---|---|---|---|---|
| -6.76 | 0.993 | -6.21 | 0.97 | 69 | 23 |
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 |
|---|---|---|---|---|---|---|---|
| 20129283 | 2010 | 1 | 0 | 1 | 0 | ||
| Literature, cohort, and gnomAD | – | 1 | 0 | 0 | 1 | – | |
| 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.
| PubMed ID | Year | Cell Type | Peak Current (% WT) | V1/2 Activation (mV) | V1/2 Inactivation (mV) | Late/Persistent Current (% WT) |
|---|---|---|---|---|---|---|
| 20129283 | 2010 |
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 |
|---|---|---|
| 1328 | 9 | V1328M, |
| 1659 | 7 | |
| 1271 | 14 | W1271C, W1271C, |
| 1480 | 11 | c.4437+5G>A, c.4438-1C>T, |
| 1773 | 13 | |
| 1765 | 12 | |
| 1653 | 12 | |
| 1472 | 11 | p.N1472del, N1472S, |
| 1315 | 8 | |
| 1771 | 13 | I1771T, |
| 1314 | 9 | c.3940_3941delCT, |
| 1320 | 4 | M1320I, M1320I, M1320I, |
| 1764 | 12 | c.5290delG, V1764F, |
| 1666 | 13 | |
| 1656 | 8 | |
| 1477 | 10 | K1477N, K1477N, |
| 1471 | 15 | |
| 1762 | 11 | p.I1762del, I1762M, |
| 1470 | 13 | |
| 1466 | 15 | c.4396_4397insG, |
| 1767 | 10 | Y1767C, |
| 1313 | 13 | |
| 1660 | 6 | I1660V, I1660S, |
| 1654 | 14 | |
| 1329 | 10 | G1329S, |
| 1310 | 15 | |
| 1769 | 10 | |
| 1316 | 13 | R1316Q, R1316L, |
| 1766 | 7 | M1766L, M1766V, M1766L, M1766T, |
| 1319 | 6 | G1319V, |
| 1665 | 15 | |
| 1768 | 13 | I1768V, |
| 1774 | 14 | N1774D, c.5321_5324dupACTT |
| 1479 | 12 | |
| 1473 | 7 | F1473S, F1473C, |
| 1334 | 15 | I1334V, |
| 1468 | 14 | V1468F, V1468A, |
| 1663 | 8 | |
| 1657 | 10 | |
| 1474 | 13 | |
| 1759 | 13 | S1759C, |
| 1662 | 10 | |
| 1324 | 4 | |
| 1317 | 10 | F1317C, |
| 1327 | 7 | |
| 1758 | 13 | I1758V, p.I1758del, |
| 1318 | 10 | |
| 1330 | 11 | A1330T, A1330P, A1330D, |
| 1772 | 15 | L1772V, |
| 1321 | 9 | R1321K, |
| 1323 | 0 | V1323G, |
| 1770 | 9 | I1770V, |
| 1322 | 4 | c.3963+2T>C, c.3963+4A>G, |
| 1312 | 12 | |
| 1326 | 6 | A1326S, |
| 1763 | 9 | V1763M, V1763L, V1763L, |
| 1311 | 12 | L1311P, |
| 1476 | 8 | Q1476X, Q1476R, |
| 1661 | 10 | G1661R, G1661R, G1661E, |
| 1331 | 13 | I1331V, |
| 1655 | 11 | |
| 1475 | 13 | p.Q1475NfsX6, Q1475L, |
| 1469 | 11 | I1469V, |
| 1325 | 6 | N1325S, |
| 1667 | 13 | V1667I, |
| 1664 | 11 | |
| 1658 | 12 |