SCN5A Variant G298D
Summary of observed carriers, functional annotations, and structural context for SCN5A G298D. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
0%
0/13 effective observations
Estimated BrS1 penetrance
7%
0/13 effective observations
Total carriers
3
0 BrS1 · 0 LQT3 · 3 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -0.91 | 0.005 | -0.5 | 0.477 | 3 | 1 |
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 | – | 3 | 3 | 0 | 0 | – | |
| Variant features alone | – | 15 | 15 | 0 | 0 | – | – |
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 |
|---|---|---|
| 283 | 15 | |
| 284 | 14 | |
| 285 | 14 | T285K, |
| 286 | 13 | A286S, A286V, |
| 287 | 13 | |
| 288 | 12 | N288S, |
| 289 | 11 | G289S, |
| 290 | 11 | p.T290_G292del, |
| 291 | 10 | N291S, N291H, p.N291_S293dup, N291K, p.N291TfsX52, N291K, |
| 292 | 9 | G292S, |
| 293 | 8 | |
| 294 | 8 | V294M, |
| 295 | 7 | E295K, |
| 296 | 5 | |
| 297 | 4 | |
| 298 | 0 | G298S, G298D, |
| 299 | 4 | L299F, L299M, L299F, |
| 300 | 5 | V300I, |
| 301 | 7 | |
| 302 | 8 | |
| 303 | 8 | |
| 304 | 9 | |
| 305 | 10 | D305N |
| 306 | 11 | L306F, L306V, |
| 307 | 11 | |
| 308 | 12 | |
| 309 | 13 | S309C, S309N, |
| 310 | 13 | D310N, |
| 311 | 14 | |
| 312 | 14 | E312K, c.934+1G>A, c.934+4C>T, |
| 313 | 15 |