SCN5A Variant L368M
Summary of observed carriers, functional annotations, and structural context for SCN5A L368M. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
15%
0/10 effective observations
Estimated BrS1 penetrance
45%
4/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 4 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 | 0.845 | 66 | 17 |
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 | 11 | 0 | 4 | – | – |
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 |
|---|---|---|
| 403 | 13 | |
| 364 | 6 | |
| 271 | 14 | L271V, |
| 266 | 14 | L266H, |
| 276 | 14 | L276Q, L276P, |
| 363 | 9 | |
| 404 | 12 | L404V, L404Q, |
| 360 | 14 | |
| 396 | 5 | V396L, V396A, |
| 355 | 10 | F355I, F355C, |
| 391 | 13 | |
| 372 | 8 | |
| 401 | 8 | S401P, |
| 371 | 6 | Q371E, |
| 1711 | 12 | c.5131delG, |
| 928 | 15 | L928P, |
| 361 | 10 | |
| 904 | 14 | W904X, |
| 260 | 12 | |
| 366 | 7 | |
| 365 | 5 | |
| 1706 | 12 | Q1706H, Q1706H, |
| 376 | 12 | R376C, R376H, |
| 258 | 14 | V258A, |
| 354 | 13 | |
| 897 | 13 | G897R, G897R, G897E, |
| 369 | 6 | M369K, |
| 378 | 10 | |
| 402 | 11 | F402L, F402L, F402L, |
| 373 | 9 | |
| 267 | 12 | |
| 1712 | 15 | G1712S, G1712C |
| 379 | 13 | |
| 262 | 13 | S262G, |
| 898 | 14 | |
| 399 | 11 | |
| 272 | 12 | |
| 397 | 6 | I397V, I397F, I397T, |
| 405 | 12 | |
| 362 | 10 | |
| 261 | 10 | |
| 920 | 14 | |
| 1709 | 10 | p.T1709del, T1709R, T1709M, |
| 900 | 11 | |
| 392 | 8 | |
| 389 | 14 | Y389H, Y389X, |
| 269 | 14 | |
| 395 | 10 | |
| 393 | 7 | |
| 390 | 13 | |
| 394 | 11 | |
| 264 | 9 | |
| 1708 | 14 | T1708I, |
| 382 | 14 | |
| 265 | 10 | A265V, |
| 374 | 6 | W374G, |
| 1705 | 12 | |
| 358 | 14 | |
| 903 | 15 | p.M903CfsX29, |
| 367 | 5 | R367C, R367H, R367L, |
| 263 | 13 | V263I, |
| 359 | 14 | A359T, p.A359PfsX12, |
| 370 | 7 | T370M, |
| 381 | 11 | c.1140+1G>A, c.1141-3C>A, |
| 923 | 14 | |
| 375 | 11 | |
| 406 | 15 | N406S, N406K, N406K, |
| 368 | 0 | |
| 899 | 11 | |
| 380 | 13 | |
| 1710 | 13 | S1710L, |
| 268 | 11 | G268S, |
| 377 | 7 | |
| 398 | 12 | |
| 257 | 13 | |
| 400 | 9 | G400R, G400R, G400E, G400A, |
| 353 | 12 | T353I, |