SCN5A Variant G1220E
Summary of observed carriers, functional annotations, and structural context for SCN5A G1220E. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
12%
0/11 effective observations
Estimated BrS1 penetrance
21%
2/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -7.77 | 0.999 | -4.8 | 0.899 | 21 | 14 |
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 | 13 | 0 | 2 | – | – |
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 |
|---|---|---|
| 1245 | 14 | M1245I, M1245I, M1245I, |
| 1218 | 5 | S1218T, S1218I, |
| 1304 | 12 | T1304M, |
| 1217 | 6 | |
| 1243 | 13 | D1243N, |
| 1216 | 7 | L1216V, |
| 1234 | 15 | |
| 1698 | 13 | A1698T, |
| 1220 | 0 | G1220E, |
| 1673 | 10 | |
| 1213 | 11 | |
| 1241 | 14 | |
| 1309 | 13 | R1309C, R1309H, |
| 1226 | 12 | |
| 1669 | 8 | |
| 1221 | 3 | A1221V, |
| 1242 | 11 | |
| 1668 | 14 | M1668T, |
| 1676 | 13 | M1676T, M1676I, M1676I, M1676I, |
| 1219 | 4 | S1219N, |
| 1672 | 12 | S1672Y, |
| 1239 | 10 | L1239P, |
| 1310 | 11 | |
| 1306 | 11 | R1306S, R1306H, |
| 1665 | 12 | |
| 1305 | 15 | |
| 1246 | 12 | |
| 1235 | 11 | |
| 1701 | 13 | M1701I, M1701I, M1701I |
| 1307 | 10 | |
| 1228 | 14 | Y1228H, Y1228C, Y1228F, |
| 1223 | 5 | c.3667delG, |
| 1697 | 10 | |
| 1222 | 5 | p.L1222LfsX7, L1222R, |
| 1229 | 14 | |
| 1215 | 9 | I1215V, |
| 1301 | 15 | |
| 1214 | 11 | M1214T, |
| 1212 | 13 | p.I1212del, |
| 1696 | 13 | |
| 1700 | 14 | |
| 1308 | 14 | L1308F, |
| 1224 | 6 | |
| 1670 | 12 | |
| 1240 | 14 | E1240Q, |
| 1225 | 10 | E1225K, G1225K, |
| 1238 | 12 | |
| 1303 | 12 | R1303W, R1303Q, |
| 1666 | 12 |