SCN5A Variant L365H
Summary of observed carriers, functional annotations, and structural context for SCN5A L365H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
13%
0/10 effective observations
Estimated BrS1 penetrance
44%
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 | 0.971 | 63 | 13 |
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 | 15 | |
| 364 | 5 | |
| 271 | 13 | L271V, |
| 266 | 10 | L266H, |
| 276 | 14 | L276Q, L276P, |
| 363 | 7 | |
| 404 | 12 | L404Q, L404V, |
| 270 | 14 | Q270K, |
| 360 | 11 | |
| 1627 | 15 | |
| 396 | 7 | V396A, V396L, |
| 355 | 8 | F355I, F355C, |
| 391 | 15 | |
| 254 | 14 | |
| 372 | 11 | |
| 401 | 10 | S401P, |
| 356 | 13 | D356N, |
| 371 | 11 | Q371E, |
| 361 | 6 | |
| 904 | 14 | W904X, |
| 260 | 9 | |
| 366 | 6 | |
| 365 | 0 | |
| 258 | 11 | V258A, |
| 354 | 11 | |
| 1546 | 13 | M1546T, |
| 369 | 6 | M369K, |
| 378 | 13 | |
| 402 | 14 | F402L, F402L, F402L, |
| 373 | 13 | |
| 267 | 9 | |
| 262 | 9 | S262G, |
| 357 | 12 | |
| 256 | 14 | |
| 399 | 12 | |
| 272 | 11 | |
| 397 | 9 | I397V, I397T, I397F, |
| 405 | 14 | |
| 362 | 6 | |
| 261 | 6 | |
| 273 | 15 | |
| 920 | 13 | |
| 900 | 12 | |
| 392 | 9 | |
| 389 | 14 | Y389X, Y389H, |
| 269 | 11 | |
| 395 | 11 | |
| 393 | 9 | |
| 916 | 14 | |
| 394 | 13 | |
| 264 | 7 | |
| 259 | 12 | |
| 265 | 6 | A265V, |
| 374 | 11 | W374G, |
| 358 | 10 | |
| 903 | 14 | p.M903CfsX29, |
| 367 | 7 | R367H, R367L, R367C, |
| 263 | 9 | V263I, |
| 359 | 10 | A359T, p.A359PfsX12, |
| 370 | 9 | T370M, |
| 381 | 13 | c.1141-3C>A, c.1140+1G>A, |
| 923 | 14 | |
| 368 | 5 | |
| 899 | 12 | |
| 352 | 15 | Y352C, |
| 380 | 15 | |
| 268 | 8 | G268S, |
| 377 | 10 | |
| 398 | 14 | |
| 257 | 11 | |
| 400 | 10 | G400E, G400A, G400R, G400R, |
| 353 | 11 | T353I, |