SCN5A Variant G1845R
Summary of observed carriers, functional annotations, and structural context for SCN5A G1845R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
8%
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 (%) |
|---|---|---|---|---|---|
| -7.4 | 1 | -1.18 | 0.921 | 4 | 4 |
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 |
|---|---|---|
| 1852 | 14 | D1852V, |
| 1811 | 10 | Y1811N, Y1811X, |
| 1843 | 6 | |
| 1814 | 13 | |
| 1849 | 13 | H1849R, |
| 1842 | 7 | M1842L, M1842L, M1842T, M1842V, |
| 1806 | 12 | p.Thr1806SerfsX27, |
| 1848 | 9 | |
| 1812 | 11 | S1812L, S1812X, |
| 1808 | 9 | |
| 1810 | 8 | |
| 1813 | 12 | |
| 1846 | 4 | |
| 1804 | 15 | |
| 1809 | 10 | I1809M, |
| 1844 | 4 | |
| 1807 | 14 | c.5420dupA, |
| 1841 | 12 | |
| 1802 | 15 | |
| 1847 | 4 | R1847H, R1847C, |
| 1845 | 0 | G1845R, G1845R |
| 1840 | 14 |