SCN5A Variant D979H
Summary of observed carriers, functional annotations, and structural context for SCN5A D979H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
10%
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 (%) |
|---|---|---|---|---|---|
| -2.28 | 0.999 | 1.67 | 0.685 | 3 | 10 |
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 |
|---|---|---|
| 964 | 15 | A964G, |
| 965 | 14 | R965C, R965L, R965H, |
| 966 | 14 | |
| 967 | 13 | Q967R, |
| 968 | 13 | |
| 969 | 12 | G969C, G969S, |
| 970 | 11 | |
| 971 | 11 | R971C, R971H, |
| 972 | 10 | c.2914_2923delTTTGTCAAGC, |
| 973 | 9 | |
| 974 | 8 | K974D, |
| 975 | 8 | R975Q, R975W, |
| 976 | 7 | |
| 977 | 5 | |
| 978 | 4 | |
| 979 | 0 | D979H, |
| 980 | 4 | |
| 981 | 5 | C981F, |
| 982 | 7 | C982R, |
| 983 | 8 | G983D, |
| 984 | 8 | |
| 985 | 9 | |
| 986 | 10 | R986L, R986Q, R986W, |
| 987 | 11 | |
| 988 | 11 | R988Q, R988W |
| 989 | 12 | |
| 990 | 13 | |
| 991 | 13 | K991T, K991E, |
| 992 | 14 | |
| 993 | 14 | A993S, A993T, |
| 994 | 15 | A994V, A994T, |