SCN5A Variant Q1930H
Summary of observed carriers, functional annotations, and structural context for SCN5A Q1930H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/11 effective observations
Estimated BrS1 penetrance
7%
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 (%) |
|---|---|---|---|---|---|
| -1.16 | 0.167 | 1.53 | 0.306 | 3 | 1 |
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 |
|---|---|---|
| 1915 | 15 | H1915Y, H1915P, H1915Q, H1915N, |
| 1916 | 14 | |
| 1917 | 14 | |
| 1918 | 13 | |
| 1919 | 13 | R1919C, R1919H, |
| 1920 | 12 | S1920C, |
| 1921 | 11 | |
| 1922 | 11 | K1922N, K1922R, |
| 1923 | 10 | H1923Y, H1923D, |
| 1924 | 9 | A1924T, |
| 1925 | 8 | p.S1925CfsX20, S1925F, |
| 1926 | 8 | |
| 1927 | 7 | L1927P, |
| 1928 | 5 | F1928V, |
| 1929 | 4 | R1929C, R1929H, |
| 1930 | 0 | Q1930H, |
| 1931 | 4 | |
| 1932 | 5 | A1932V, |
| 1933 | 7 | G1933D, G1933A, G1933V, |
| 1934 | 8 | |
| 1935 | 8 | G1935S |
| 1936 | 9 | |
| 1937 | 10 | S1937A, |
| 1938 | 11 | E1938X, E1938K, |
| 1939 | 11 | p.E1939_E1943del, |
| 1940 | 12 | |
| 1941 | 13 | |
| 1942 | 13 | P1942S, P1942H, |
| 1943 | 14 | |
| 1944 | 14 | R1944Q, R1944X, |
| 1945 | 15 |