SCN5A Variant C1136Y

Summary of observed carriers, functional annotations, and structural context for SCN5A C1136Y. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/11 effective observations

Estimated BrS1 penetrance

4%

0/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

C1136Y is present in 1 alleles in gnomAD. This residue resides in a Non_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 0.46 0.212 6 2

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 – 1 1 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 C1136Y.
Neighbour residue Distance (Å) Observed variants
1121 15 A1121V,
1122 14
1123 14
1124 13
1125 13 A1125T, A1125G, A1125V,
1126 12
1127 11
1128 11 C1128X,
1129 10 G1129S,
1130 9 E1130K,
1131 8 c.3390-1G>A, T1131I, c.3391-1G>A, T1131S, T1131S,
1132 8 P1132S,
1133 7
1134 5 D1134N, D1134E, D1134E,
1135 4 S1135I
1136 0 C1136Y,
1137 4
1138 5
1139 7
1140 8 S1140T,
1141 8
1142 9
1143 10
1144 11
1145 11
1146 12
1147 13 T1147I, T1147N, T1147S, T1147S,
1148 13 A1148S, A1148T,
1149 14
1150 14
1151 15