SCN5A Variant Y352F
Summary of observed carriers, functional annotations, and structural context for SCN5A Y352F. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/10 effective observations
Estimated BrS1 penetrance
51%
5/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 5 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 | 0.768 | 79 | 2 |
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 | 10 | 0 | 5 | – | – |
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 | |
| 277 | 12 | |
| 901 | 12 | S901L, E901K, |
| 919 | 14 | |
| 276 | 12 | L276Q, L276P, |
| 363 | 9 | |
| 348 | 9 | P348A, |
| 360 | 5 | |
| 355 | 12 | F355C, F355I, |
| 356 | 10 | D356N, |
| 361 | 11 | |
| 904 | 6 | W904X, |
| 366 | 15 | |
| 365 | 15 | |
| 376 | 14 | R376H, R376C, |
| 871 | 14 | |
| 354 | 8 | |
| 909 | 12 | |
| 902 | 13 | |
| 349 | 9 | D349N, |
| 1550 | 15 | |
| 357 | 10 | |
| 274 | 14 | G274C, |
| 362 | 13 | |
| 911 | 10 | G911E, |
| 900 | 10 | |
| 872 | 15 | D872N, |
| 345 | 12 | |
| 917 | 15 | L917V, L917R, |
| 913 | 12 | |
| 916 | 11 | |
| 912 | 7 | Q912R, |
| 347 | 7 | |
| 906 | 11 | |
| 351 | 4 | G351C, G351V, G351S, G351D, |
| 910 | 12 | S910L, |
| 350 | 6 | H350Q, H350Q, |
| 358 | 14 | |
| 903 | 9 | p.M903CfsX29, |
| 367 | 12 | R367C, R367L, R367H, |
| 346 | 9 | E346K, E346D, E346G, E346D, E346X, |
| 359 | 10 | p.A359PfsX12, A359T, |
| 344 | 15 | A344S, |
| 322 | 14 | |
| 905 | 10 | |
| 352 | 0 | Y352C, |
| 915 | 12 | C915R, |
| 899 | 13 | |
| 380 | 14 | |
| 377 | 13 | |
| 908 | 8 | |
| 914 | 15 | |
| 353 | 6 | T353I, |
| 907 | 7 |