SCN5A Variant G857D
Summary of observed carriers, functional annotations, and structural context for SCN5A G857D. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/13 effective observations
Estimated BrS1 penetrance
13%
1/13 effective observations
Total carriers
3
0 BrS1 · 0 LQT3 · 3 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 (%) |
---|---|---|---|---|---|
-6.93 | 1 | -4.19 | 0.982 | 13 | 5 |
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 | 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 |
---|---|---|
891 | 9 | I891N, I891T, |
880 | 11 | |
888 | 11 | |
848 | 15 | I848F, |
223 | 10 | V223L, |
856 | 4 | V856L, V856L, |
890 | 9 | I890T, |
919 | 9 | |
862 | 7 | |
867 | 15 | E867Q, E867X, E867K, |
859 | 6 | |
894 | 12 | I894M, |
149 | 13 | |
863 | 11 | |
887 | 7 | |
864 | 10 | |
886 | 11 | H886Q, H886Q, H886P, |
216 | 11 | S216X, S216L, |
851 | 10 | p.F851CfsX19, F851L, F851L, c.2550_2551dupGT, F851L, c.2552_2553dupGT, |
221 | 10 | |
909 | 13 | |
852 | 9 | |
854 | 5 | c.2559delT, |
222 | 13 | R222L, R222X, R222Q, |
224 | 12 | L224F, |
857 | 0 | G857D, |
902 | 12 | |
882 | 10 | |
892 | 14 | F892I, |
881 | 5 | |
849 | 13 | |
226 | 15 | A226V, A226G, |
893 | 15 | R893C, R893H, |
921 | 12 | |
922 | 11 | V922I, |
860 | 5 | p.L860fsx89, |
911 | 14 | G911E, |
920 | 14 | |
889 | 12 | |
858 | 5 | M858L, M858L, |
217 | 11 | |
918 | 8 | |
855 | 6 | |
917 | 13 | L917V, L917R, |
865 | 10 | |
913 | 13 | |
916 | 14 | |
148 | 12 | |
884 | 10 | |
906 | 10 | |
866 | 14 | S866P, S866L, |
910 | 11 | S910L, |
885 | 13 | |
903 | 13 | p.M903CfsX29, |
152 | 13 | D152N, |
853 | 8 | |
219 | 11 | R219H, c.656_657insATTCA, R219C, p.R219HfsX11, |
877 | 15 | |
151 | 13 | |
879 | 14 | W879R, W879R, |
218 | 14 | |
883 | 10 | |
905 | 14 | |
915 | 9 | C915R, |
215 | 14 | p.L215CfsX10, |
850 | 11 | V850M, c.2549_2550insTG, |
914 | 9 | |
145 | 15 | |
861 | 5 | c.2582_2583delTT, p.F861WfsX90, |
220 | 8 | T220I, |
907 | 14 |