SCN5A Variant S1976C
Summary of observed carriers, functional annotations, and structural context for SCN5A S1976C. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
13%
0/11 effective observations
Estimated BrS1 penetrance
8%
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 (%) |
|---|---|---|---|---|---|
| -4.56 | 0.999 | -1.47 | 0.65 | 0 | 15 |
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 |
|---|---|---|
| 1961 | 15 | |
| 1962 | 14 | P1962L, P1962S, |
| 1963 | 14 | P1963L, |
| 1964 | 13 | S1964F, |
| 1965 | 13 | S1965N, S1965G, |
| 1966 | 12 | |
| 1967 | 11 | p.S1967LfsX12, |
| 1968 | 11 | I1968T, I1968N, I1968V, I1968S, I1968M |
| 1969 | 10 | |
| 1970 | 9 | p.S1970_S1972del, |
| 1971 | 8 | |
| 1972 | 8 | |
| 1973 | 7 | F1973L, |
| 1974 | 5 | |
| 1975 | 4 | P1975T, |
| 1976 | 0 | S1976C, |
| 1977 | 4 | Y1977N, |
| 1978 | 5 | |
| 1979 | 7 | |
| 1980 | 8 | V1980F, |
| 1981 | 8 | |
| 1982 | 9 | R1982T, |
| 1983 | 10 | A1983G, A1983V, |
| 1984 | 11 | T1984I, |
| 1985 | 11 | S1985R, |
| 1986 | 12 | D1986G, D1986N, |
| 1987 | 13 | N1987K, |
| 1988 | 13 | L1988R, |
| 1989 | 14 | |
| 1990 | 14 | V1990L, |
| 1991 | 15 | R1991Q, R1991W, |