SCN5A Variant S357Y
Summary of observed carriers, functional annotations, and structural context for SCN5A S357Y. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
10%
0/10 effective observations
Estimated BrS1 penetrance
40%
3/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 3 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 | 0.949 | 56 | 9 |
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 | 12 | 0 | 3 | – | – |
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 | 11 | |
| 277 | 11 | |
| 271 | 13 | L271V, |
| 266 | 10 | L266H, |
| 276 | 12 | L276Q, L276P, |
| 363 | 10 | |
| 1544 | 14 | T1544P, |
| 348 | 14 | P348A, |
| 270 | 11 | Q270K, |
| 360 | 6 | |
| 1552 | 11 | Q1552R, Q1552L, |
| 355 | 8 | F355C, F355I, |
| 1549 | 6 | |
| 1556 | 14 | |
| 356 | 4 | D356N, |
| 1543 | 13 | V1543A, V1543L, V1543L, |
| 1542 | 15 | |
| 361 | 6 | |
| 904 | 14 | W904X |
| 343 | 15 | |
| 365 | 12 | |
| 354 | 7 | |
| 1546 | 9 | M1546T, |
| 1545 | 12 | |
| 267 | 13 | |
| 1550 | 9 | |
| 262 | 13 | S262G, |
| 357 | 0 | |
| 272 | 12 | |
| 274 | 11 | G274C, |
| 362 | 10 | |
| 261 | 14 | |
| 273 | 8 | |
| 1553 | 15 | S1553R, S1553R, S1553R, |
| 269 | 7 | |
| 345 | 15 | |
| 916 | 14 | |
| 275 | 13 | N275K, N275K, |
| 264 | 15 | |
| 912 | 13 | Q912R, |
| 347 | 12 | |
| 1548 | 9 | E1548K, G1548K, |
| 351 | 11 | G351S, G351V, G351C, G351D, |
| 265 | 9 | A265V, |
| 358 | 6 | |
| 1551 | 12 | D1551Y, D1551N, |
| 263 | 15 | V263I, |
| 346 | 14 | E346D, E346D, E346X, E346K, E346G, |
| 359 | 5 | A359T, p.A359PfsX12, |
| 1547 | 9 | V1547L, V1547L, |
| 352 | 10 | Y352C, |
| 268 | 10 | G268S, |
| 353 | 11 | T353I, |
| 907 | 15 |