SCN5A Variant V1045M
Summary of observed carriers, functional annotations, and structural context for SCN5A V1045M. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/17 effective observations
Estimated BrS1 penetrance
7%
1/17 effective observations
Total carriers
7
0 BrS1 · 0 LQT3 · 7 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -2.39 | 0.084 | 0.74 | 0.564 | 12 | 0 |
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 | – | 7 | 7 | 0 | 0 | – | |
| Variant features alone | – | 15 | 14 | 0 | 1 | – | – |
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 |
|---|---|---|
| 1030 | 15 | |
| 1031 | 14 | p.G1031fsX27, |
| 1032 | 14 | E1032D, E1032D, E1032K, |
| 1033 | 13 | Q1033R, |
| 1034 | 13 | P1034T, |
| 1035 | 12 | G1035V, |
| 1036 | 11 | |
| 1037 | 11 | |
| 1038 | 10 | |
| 1039 | 9 | |
| 1040 | 8 | G1040R, G1040R, |
| 1041 | 8 | D1041N, D1041G, |
| 1042 | 7 | |
| 1043 | 5 | E1043K, |
| 1044 | 4 | |
| 1045 | 0 | V1045M, |
| 1046 | 4 | |
| 1047 | 5 | c.3140_3141dupTG, |
| 1048 | 7 | P1048S, c.3142_3143insTG, p.P1048SfsX96, |
| 1049 | 8 | |
| 1050 | 8 | A1050T, p.A1050DfsX9, p.A1050CfsX9, |
| 1051 | 9 | V1051A, |
| 1052 | 10 | p.A1052CfsX7, A1052D, |
| 1053 | 11 | E1053K, |
| 1054 | 11 | |
| 1055 | 12 | D1055G, |
| 1056 | 13 | T1056A, |
| 1057 | 13 | |
| 1058 | 14 | c.3171_3172delTGinsA, |
| 1059 | 14 | Q1059X, |
| 1060 | 15 |