SCN5A Variant p.E1072del
Summary of observed carriers, functional annotations, and structural context for SCN5A p.E1072del. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
13%
1/13 effective observations
Estimated BrS1 penetrance
6%
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 1 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | None | 2 | 25 |
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 | 14 | 1 | 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 |
|---|---|---|
| 1057 | 15 | |
| 1058 | 14 | c.3171_3172delTGinsA |
| 1059 | 14 | Q1059X, |
| 1060 | 13 | |
| 1061 | 13 | E1061D, E1061D, |
| 1062 | 12 | D1062H, |
| 1063 | 11 | E1063G, |
| 1064 | 11 | p.E1064del, |
| 1065 | 10 | |
| 1066 | 9 | S1066G, |
| 1067 | 8 | L1067R, |
| 1068 | 8 | G1068A, G1068D, |
| 1069 | 7 | T1069M, |
| 1070 | 5 | |
| 1071 | 4 | E1071K, p.E1071GfsX76, |
| 1072 | 0 | p.E1072del, |
| 1073 | 4 | |
| 1074 | 5 | S1074R, S1074R, S1074R, S1074G, |
| 1075 | 7 | |
| 1076 | 8 | |
| 1077 | 8 | c.3228+2delT, |
| 1078 | 9 | |
| 1079 | 10 | S1079F, S1079T, S1079Y, |
| 1080 | 11 | |
| 1081 | 11 | |
| 1082 | 12 | V1082A, |
| 1083 | 13 | S1083C, |
| 1084 | 13 | G1084S, G1084R, G1084D, |
| 1085 | 14 | |
| 1086 | 14 | |
| 1087 | 15 |