SCN5A Variant I1762M
Summary of observed carriers, functional annotations, and structural context for SCN5A I1762M. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
40%
2/12 effective observations
Estimated BrS1 penetrance
10%
1/12 effective observations
Total carriers
2
0 BrS1 · 0 LQT3 · 2 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 (%) |
---|---|---|---|---|---|
-2.4 | 1 | 0.06 | 0.742 | 13 | 75 |
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 | – | 2 | 2 | 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 |
---|---|---|
1328 | 11 | V1328M, |
1417 | 14 | |
1765 | 6 | |
1757 | 6 | |
1472 | 11 | p.N1472del, N1472S, |
1756 | 9 | I1756V, |
1461 | 14 | T1461S, T1461S, |
1320 | 14 | M1320I, M1320I, M1320I, |
1764 | 7 | c.5290delG, V1764F, |
1666 | 14 | |
1333 | 11 | |
1754 | 11 | |
1707 | 14 | |
1471 | 14 | |
1671 | 13 | |
1762 | 0 | I1762M, p.I1762del, |
1470 | 12 | |
1464 | 12 | L1464P, c.4389_4396delCCTCTTTA, |
1668 | 14 | M1668T, |
1466 | 9 | c.4396_4397insG, |
1753 | 13 | T1753A, |
1767 | 11 | Y1767C, |
1660 | 10 | I1660V, I1660S, |
1329 | 11 | G1329S, |
1769 | 11 | |
402 | 14 | F402L, F402L, F402L, |
1766 | 6 | M1766V, M1766T, M1766L, M1766L, |
1768 | 10 | I1768V, |
1473 | 11 | F1473C, F1473S, |
1334 | 7 | I1334V, |
1341 | 14 | |
1468 | 10 | V1468F, V1468A, |
1663 | 10 | |
1657 | 14 | |
1462 | 11 | |
1759 | 6 | S1759C, |
1324 | 11 | |
1327 | 7 | |
1709 | 13 | T1709M, T1709R, p.T1709del, |
1758 | 5 | I1758V, p.I1758del, |
1755 | 10 | |
1330 | 8 | A1330P, A1330D, A1330T, |
1713 | 14 | |
1323 | 11 | V1323G, |
1338 | 11 | L1338V, |
1770 | 13 | I1770V, |
1708 | 11 | T1708I, |
1322 | 14 | c.3963+2T>C, c.3963+4A>G, |
1337 | 11 | |
1326 | 10 | A1326S, |
1763 | 5 | V1763M, V1763L, V1763L, |
1332 | 12 | P1332L, P1332Q, |
1465 | 7 | p.F1465_L1480dup, |
1760 | 8 | |
1467 | 11 | |
1752 | 15 | |
1661 | 13 | G1661R, G1661R, G1661E, |
1331 | 8 | I1331V, |
1761 | 5 | c.5280delG, L1761H, L1761F, |
1469 | 7 | I1469V, |
406 | 15 | N406K, N406K, N406S, |
1336 | 14 | |
1710 | 13 | S1710L, |
1325 | 14 | N1325S, |
1335 | 12 | M1335R, |
1667 | 11 | V1667I, |
1664 | 11 | |
1463 | 12 | N1463Y, |