SCN5A Variant G1129S

Summary of observed carriers, functional annotations, and structural context for SCN5A G1129S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

1%

0/16 effective observations

Estimated BrS1 penetrance

5%

0/16 effective observations

Total carriers

6

0 BrS1 · 0 LQT3 · 6 unaffected

G1129S is present in 6 alleles in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
-0.42 0 0.14 0.299 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

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT3 BrS1 Other Other Disease
Literature, cohort, and gnomAD – 6 6 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.

Previously observed variants near G1129S.
Neighbour residue Distance (Å) Observed variants
1114 15 D1114E, D1114E, D1114N,
1115 14 W1115R, W1115R, W1115X,
1116 14 R1116Q, R1116W,
1117 13
1118 13 Q1118X,
1119 12
1120 11
1121 11 A1121V,
1122 10
1123 9
1124 8
1125 8 A1125T, A1125G, A1125V,
1126 7
1127 5
1128 4 C1128X,
1129 0 G1129S,
1130 4 E1130K,
1131 5 c.3390-1G>A, T1131I, c.3391-1G>A, T1131S, T1131S,
1132 7 P1132S,
1133 8
1134 8 D1134N, D1134E, D1134E,
1135 9 S1135I
1136 10 C1136Y,
1137 11
1138 11
1139 12
1140 13 S1140T,
1141 13
1142 14
1143 14
1144 15