SCN5A Variant F358L
Summary of observed carriers, functional annotations, and structural context for SCN5A F358L. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
8%
0/10 effective observations
Estimated BrS1 penetrance
27%
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 | 0.778 | 34 | 6 |
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 |
|---|---|---|
| 364 | 10 | |
| 271 | 13 | L271V, |
| 266 | 7 | L266H, |
| 363 | 10 | |
| 1544 | 11 | T1544P, |
| 270 | 10 | Q270K, |
| 360 | 9 | |
| 1627 | 13 | |
| 396 | 15 | V396L, V396A, |
| 1552 | 14 | Q1552L, Q1552R, |
| 355 | 9 | F355C, F355I, |
| 1549 | 10 | |
| 356 | 9 | D356N, |
| 1543 | 10 | V1543A, V1543L, |
| 1542 | 10 | |
| 361 | 5 | |
| 260 | 13 | |
| 366 | 13 | |
| 365 | 10 | |
| 258 | 11 | V258A, |
| 354 | 11 | |
| 1546 | 5 | M1546T, |
| 1545 | 10 | |
| 267 | 10 | |
| 1550 | 13 | |
| 262 | 7 | S262G, |
| 357 | 6 | |
| 272 | 13 | |
| 274 | 14 | G274C, |
| 362 | 6 | |
| 261 | 9 | |
| 273 | 11 | |
| 1539 | 14 | C1539F, C1539Y, |
| 392 | 15 | |
| 269 | 6 | |
| 916 | 14 | |
| 264 | 11 | |
| 259 | 12 | |
| 1548 | 10 | G1548K, E1548K, |
| 265 | 6 | A265V, |
| 358 | 0 | |
| 367 | 15 | R367C, R367H, R367L, |
| 263 | 10 | V263I, |
| 359 | 5 | p.A359PfsX12, A359T, |
| 1547 | 9 | V1547L, |
| 1541 | 14 | |
| 1540 | 15 | |
| 352 | 14 | Y352C, |
| 368 | 14 | |
| 268 | 9 | G268S, |
| 257 | 14 | |
| 353 | 14 | T353I, |
| 1623 | 14 | R1623Q, c.4867delC, R1623L, R1623X, |