SCN5A Variant D1792Y
Summary of observed carriers, functional annotations, and structural context for SCN5A D1792Y. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
11%
0/11 effective observations
Estimated BrS1 penetrance
10%
1/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -5.53 | 1 | -4.11 | 0.904 | 2 | 16 |
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 | – | 1 | 1 | 0 | 0 | – | |
| Variant features alone | – | 15 | 14 | 0 | 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 |
|---|---|---|
| 1850 | 13 | C1850S, C1850S, |
| 1785 | 14 | |
| 1794 | 8 | |
| 1778 | 14 | |
| 1853 | 15 | I1853V |
| 1795 | 7 | Y1795N, Y1795H, p.Y1795_E1796insD, Y1795C, |
| 1635 | 13 | |
| 1652 | 14 | M1652T, M1652R, |
| 1634 | 15 | L1634P, |
| 1824 | 14 | P1824A, |
| 1820 | 14 | A1820T, A1820V, |
| 1504 | 8 | K1504E, |
| 1641 | 12 | |
| 1851 | 14 | M1851V, M1851I, M1851I, M1851I, |
| 1501 | 12 | p.L1501_K1505del, L1501V, |
| 1857 | 15 | |
| 1639 | 14 | G1639A, |
| 1507 | 9 | p.Q1507_P1509del, |
| 1505 | 12 | p.K1505_Q1507del, K1505N, K1505N, |
| 1858 | 13 | |
| 1509 | 15 | P1509T, |
| 1787 | 8 | S1787N, |
| 1786 | 10 | c.5356_5357delCT, L1786Q, L1786R, |
| 1648 | 10 | |
| 1649 | 14 | A1649V, |
| 1821 | 12 | |
| 1644 | 10 | R1644C, R1644H, R1644L, |
| 1798 | 12 | W1798X, |
| 1496 | 15 | |
| 1854 | 11 | |
| 1825 | 11 | L1825P, |
| 1797 | 10 | I1797V, |
| 1800 | 13 | |
| 1793 | 6 | M1793K, |
| 1781 | 14 | E1781G, E1781D, E1781D, |
| 1789 | 5 | |
| 1817 | 14 | |
| 1645 | 12 | T1645M, |
| 1796 | 6 | |
| 1799 | 11 | |
| 1788 | 5 | c.5361_5364delTGAG, |
| 1638 | 9 | R1638X, R1638Q, |
| 1651 | 12 | |
| 1500 | 10 | p.K1500del, |
| 1791 | 6 | |
| 1637 | 13 | |
| 1792 | 0 | D1792N, D1792Y, D1792V, |
| 1823 | 15 | E1823K, p.E1823HfsX10, |
| 1508 | 14 | |
| 1502 | 13 | G1502S, G1502A, |
| 1497 | 13 | |
| 1790 | 7 | D1790N, D1790G, p.D1790del, |
| 1506 | 11 | P1506T, P1506S, |
| 1647 | 14 | |
| 1503 | 11 | S1503Y, |
| 1822 | 11 | c.5464_5467delTCTG, c.5464-5467delTCTG, |
| 1782 | 15 |