SCN5A Variant I408V
Summary of observed carriers, functional annotations, and structural context for SCN5A I408V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
51%
2/10 effective observations
Estimated BrS1 penetrance
13%
1/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 2 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.815 | 10 | 69 |
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 | 2 | 1 | – | – |
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 | 11 | |
| 414 | 10 | M414V, |
| 1643 | 13 | I1643L, |
| 404 | 6 | L404Q, L404V, |
| 895 | 15 | L895F, |
| 1773 | 15 | |
| 1765 | 15 | |
| 249 | 10 | K249X, |
| 247 | 10 | V247L, V247L, |
| 254 | 8 | |
| 1771 | 10 | I1771T, |
| 401 | 10 | S401P, |
| 926 | 11 | |
| 371 | 14 | Q371E, |
| 250 | 6 | |
| 409 | 5 | L409P, L409V, |
| 928 | 6 | L928P, |
| 925 | 12 | I925F, |
| 1650 | 12 | L1650F, |
| 260 | 13 | |
| 366 | 13 | |
| 934 | 15 | |
| 933 | 11 | |
| 258 | 14 | V258A, |
| 246 | 8 | |
| 935 | 11 | L935P, |
| 1779 | 14 | T1779M, |
| 412 | 7 | V412D, |
| 897 | 15 | G897R, G897E, G897R, |
| 924 | 9 | V924I, |
| 927 | 9 | N927K, N927S, N927K, |
| 1466 | 14 | c.4396_4397insG, |
| 245 | 13 | Q245K, |
| 1776 | 14 | |
| 369 | 11 | M369K, |
| 1767 | 14 | Y1767C, |
| 244 | 15 | |
| 1769 | 14 | |
| 402 | 12 | F402L, F402L, F402L, |
| 415 | 11 | A415T, |
| 1649 | 14 | A1649V, |
| 1768 | 11 | I1768V, |
| 1774 | 15 | N1774D, c.5321_5324dupACTT, |
| 256 | 11 | |
| 921 | 14 | |
| 922 | 15 | V922I, |
| 405 | 5 | |
| 248 | 13 | |
| 261 | 14 | |
| 920 | 14 | |
| 930 | 11 | c.2787+17_2787+18insACACACACACACACACACACACA, c.2788-6C>T, |
| 255 | 13 | |
| 1772 | 10 | L1772V, |
| 251 | 11 | |
| 410 | 6 | A410V, |
| 242 | 13 | A242D, |
| 1770 | 15 | I1770V, |
| 929 | 8 | |
| 416 | 14 | Y416C, |
| 413 | 9 | A413T, A413E, |
| 408 | 0 | |
| 253 | 7 | |
| 407 | 5 | |
| 936 | 12 | |
| 1775 | 10 | F1775V, p.F1775LfsX15, |
| 370 | 12 | T370M, |
| 1642 | 14 | G1642E, |
| 923 | 12 | |
| 406 | 7 | N406S, N406K, N406K, |
| 252 | 12 | |
| 411 | 6 | V411M, |
| 243 | 12 | |
| 932 | 7 | |
| 1647 | 14 | |
| 257 | 9 | |
| 400 | 11 | G400R, G400A, G400E, G400R, |
| 931 | 11 | |
| 1646 | 11 |