SCN5A Variant D945G
Summary of observed carriers, functional annotations, and structural context for SCN5A D945G. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/13 effective observations
Estimated BrS1 penetrance
7%
0/13 effective observations
Total carriers
3
0 BrS1 · 0 LQT3 · 3 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 (%) |
|---|---|---|---|---|---|
| -6.84 | 0.115 | -1.8 | 0.895 | 2 | 7 |
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 | – | 3 | 3 | 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 |
|---|---|---|
| 930 | 15 | c.2788-6C>T, c.2787+17_2787+18insACACACACACACACACACACACA, |
| 931 | 14 | |
| 932 | 14 | |
| 933 | 13 | |
| 934 | 13 | |
| 935 | 12 | L935P, |
| 936 | 11 | |
| 937 | 11 | |
| 938 | 10 | |
| 939 | 9 | L939F, |
| 940 | 8 | S940N, |
| 941 | 8 | S941F, S941N, |
| 942 | 7 | |
| 943 | 5 | S943N, |
| 944 | 4 | |
| 945 | 0 | D945G, |
| 946 | 4 | |
| 947 | 5 | |
| 948 | 7 | |
| 949 | 8 | |
| 950 | 8 | P950X, |
| 951 | 9 | D951X, c.2850delT, |
| 952 | 10 | E952K, |
| 953 | 11 | D953E, D953Y, D953E, |
| 954 | 11 | R954G, |
| 955 | 12 | p.E955DfsX74, |
| 956 | 13 | M956I, M956I, M956I, M956T, |
| 957 | 13 | |
| 958 | 14 | |
| 959 | 14 | L959P, |
| 960 | 15 | Q960K, |