SCN5A Variant p.A359PfsX12
Summary of observed carriers, functional annotations, and structural context for SCN5A p.A359PfsX12. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/11 effective observations
Estimated BrS1 penetrance
11%
1/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 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 | None | 9 | 3 |
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 | 14 | 0 | 1 | – | – |
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 |
|---|---|---|
| 364 | 9 | |
| 277 | 15 | |
| 266 | 11 | L266H, |
| 276 | 14 | L276Q, L276P, |
| 363 | 7 | |
| 270 | 13 | Q270K, |
| 360 | 4 | |
| 1552 | 15 | Q1552R, Q1552L, |
| 355 | 9 | F355C, F355I, |
| 1549 | 11 | |
| 356 | 8 | D356N, |
| 1543 | 14 | V1543L, V1543A, |
| 1542 | 15 | |
| 361 | 5 | |
| 904 | 12 | W904X, |
| 366 | 11 | |
| 365 | 10 | |
| 258 | 13 | V258A, |
| 354 | 9 | |
| 1546 | 10 | M1546T, |
| 1545 | 14 | |
| 267 | 14 | |
| 1550 | 13 | |
| 262 | 11 | S262G, |
| 357 | 5 | |
| 272 | 14 | |
| 274 | 14 | G274C, |
| 362 | 6 | |
| 911 | 14 | G911E, |
| 261 | 11 | |
| 273 | 13 | |
| 920 | 13 | |
| 900 | 14 | |
| 269 | 9 | |
| 917 | 13 | L917R, L917V, |
| 913 | 13 | |
| 916 | 10 | |
| 264 | 14 | |
| 912 | 10 | Q912R, |
| 347 | 13 | |
| 1548 | 13 | G1548K, E1548K, |
| 351 | 12 | G351V, G351C, G351D, G351S, |
| 265 | 9 | A265V, |
| 358 | 5 | |
| 903 | 13 | p.M903CfsX29, |
| 367 | 13 | R367C, R367L, R367H, |
| 263 | 14 | V263I, |
| 359 | 0 | A359T, p.A359PfsX12, |
| 1547 | 12 | V1547L, |
| 352 | 10 | Y352C, |
| 915 | 15 | C915R, |
| 368 | 14 | |
| 899 | 15 | |
| 268 | 11 | G268S, |
| 353 | 11 | T353I, |
| 907 | 12 |