SCN5A Variant G345R
Summary of observed carriers, functional annotations, and structural context for SCN5A G345R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
7%
0/10 effective observations
Estimated BrS1 penetrance
23%
2/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 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 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.935 | 27 | 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 | – | 0 | 0 | 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 |
|---|---|---|
| 277 | 6 | |
| 326 | 14 | |
| 276 | 11 | L276Q, L276P, |
| 348 | 9 | P348A, |
| 317 | 8 | K317M, K317N, K317E, K317N, |
| 360 | 15 | |
| 279 | 6 | |
| 1549 | 15 | |
| 278 | 10 | H278R, H278D, |
| 356 | 12 | D356N, |
| 318 | 12 | |
| 343 | 8 | |
| 327 | 15 | |
| 384 | 14 | S384T, |
| 354 | 11 | |
| 340 | 14 | R340Q, R340W, |
| 349 | 13 | D349N, |
| 1550 | 11 | |
| 357 | 15 | |
| 341 | 12 | C341Y, |
| 274 | 10 | G274C, |
| 273 | 14 | |
| 319 | 11 | G319C, G319R, G319S, |
| 325 | 12 | L325R, |
| 324 | 13 | |
| 321 | 8 | S321Y, |
| 345 | 0 | |
| 275 | 12 | N275K, N275K, |
| 280 | 12 | C280Y, |
| 323 | 10 | |
| 347 | 7 | |
| 351 | 9 | G351C, G351V, G351S, G351D, |
| 320 | 8 | T320N, |
| 350 | 13 | H350Q, H350Q, |
| 342 | 9 | |
| 1551 | 12 | D1551Y, D1551N, |
| 346 | 4 | E346K, E346D, E346G, E346D, E346X, |
| 344 | 3 | A344S, |
| 322 | 10 | |
| 352 | 12 | Y352C, |
| 380 | 14 | |
| 281 | 10 | V281M, |
| 353 | 12 | T353I, |