SCN5A Variant S1834R
Summary of observed carriers, functional annotations, and structural context for SCN5A S1834R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/11 effective observations
Estimated BrS1 penetrance
3%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -0.3 | 0.323 | 1.72 | 0.425 | 1 | 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 | – | 1 | 1 | 0 | 0 | – | |
| Variant features alone | – | 15 | 15 | 0 | 0 | – | – |
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 |
|---|---|---|
| 1852 | 15 | D1852V, |
| 1855 | 14 | |
| 1826 | 13 | R1826C, R1826H, |
| 1811 | 12 | Y1811X, Y1811N, |
| 1814 | 10 | |
| 1816 | 14 | c.5445_5446insT, D1816N, D1816E, D1816E, |
| 1863 | 12 | |
| 1856 | 10 | |
| 1825 | 13 | L1825P, |
| 1860 | 7 | c.5577_5578dupAA, |
| 1857 | 9 | |
| 1853 | 12 | I1853V, |
| 1837 | 5 | |
| 1848 | 14 | |
| 1812 | 15 | S1812X, S1812L, |
| 1831 | 6 | |
| 1858 | 14 | |
| 1828 | 9 | A1828T, A1828S, |
| 1817 | 13 | |
| 1829 | 11 | |
| 1834 | 0 | S1834R, S1834R, S1834R, |
| 1836 | 6 | I1836T, |
| 1813 | 15 | |
| 1827 | 7 | |
| 1835 | 4 | L1835F, |
| 1839 | 11 | D1839G, |
| 1818 | 10 | |
| 1833 | 5 | I1833M, |
| 1819 | 12 | D1819N, |
| 1821 | 14 | |
| 1861 | 13 | V1861I, V1861F, |
| 1824 | 14 | P1824A, |
| 1841 | 14 | |
| 1838 | 6 | |
| 1832 | 6 | Q1832E, |
| 1830 | 9 | |
| 1859 | 12 | |
| 1840 | 10 | |
| 1864 | 11 | |
| 1820 | 15 | A1820T, A1820V, |
| 1815 | 10 |