SCN5A Variant T423S
Summary of observed carriers, functional annotations, and structural context for SCN5A T423S. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
18%
0/10 effective observations
Estimated BrS1 penetrance
10%
0/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 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 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.748 | 4 | 22 |
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 | 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 |
|---|---|---|
| 937 | 14 | |
| 240 | 13 | V240M, |
| 418 | 9 | E418K, |
| 237 | 9 | |
| 234 | 14 | P234S, |
| 417 | 10 | |
| 245 | 14 | Q245K, |
| 415 | 12 | A415T, |
| 940 | 13 | S940N, |
| 420 | 6 | |
| 241 | 11 | |
| 235 | 10 | G235R, c.703+1G>A, c.704-1G>C, G235R, |
| 419 | 6 | Q419X, |
| 423 | 0 | |
| 837 | 14 | |
| 239 | 12 | I239V , I239V, |
| 242 | 12 | A242D, |
| 416 | 10 | Y416C, |
| 841 | 14 | N841K, p.N841TfsX2, N841K, |
| 236 | 12 | |
| 238 | 7 | |
| 838 | 13 | |
| 422 | 4 | |
| 421 | 7 |