SCN5A Variant R1913C
Summary of observed carriers, functional annotations, and structural context for SCN5A R1913C. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/14 effective observations
Estimated BrS1 penetrance
18%
2/14 effective observations
Total carriers
4
1 BrS1 · 0 LQT3 · 3 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 (%) |
|---|---|---|---|---|---|
| -7.34 | 1 | -6.01 | 0.9 | 10 | 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 |
|---|---|---|---|---|---|---|---|
| 15996170 | 2005 | 1 | 0 | 0 | 0 | ||
| 28341781 | 2017 | 1 | 0 | 1 | 0 | ||
| Literature, cohort, and gnomAD | – | 4 | 3 | 0 | 1 | – | |
| Variant features alone | – | 15 | 14 | 0 | 1 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Functional data
Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.
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 |
|---|---|---|
| 1898 | 15 | R1898C, R1898H |
| 1899 | 14 | |
| 1900 | 14 | |
| 1901 | 13 | E1901K, E1901Q, |
| 1902 | 13 | E1902A, |
| 1903 | 12 | V1903M, |
| 1904 | 11 | S1904L, |
| 1905 | 11 | |
| 1906 | 10 | M1906T, M1906V, |
| 1907 | 9 | |
| 1908 | 8 | I1908V, |
| 1909 | 8 | Q1909R, |
| 1910 | 7 | R1910K, |
| 1911 | 5 | |
| 1912 | 4 | |
| 1913 | 0 | R1913S, R1913H, R1913C, |
| 1914 | 4 | R1914G, |
| 1915 | 5 | H1915P, H1915Y, H1915N, H1915Q, |
| 1916 | 7 | |
| 1917 | 8 | |
| 1918 | 8 | |
| 1919 | 9 | R1919C, R1919H, |
| 1920 | 10 | S1920C, |
| 1921 | 11 | |
| 1922 | 11 | K1922R, K1922N, |
| 1923 | 12 | H1923D, H1923Y, |
| 1924 | 13 | A1924T, |
| 1925 | 13 | p.S1925CfsX20, S1925F, |
| 1926 | 14 | |
| 1927 | 14 | L1927P, |
| 1928 | 15 | F1928V, |