SCN5A Variant S1083C

Summary of observed carriers, functional annotations, and structural context for SCN5A S1083C. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

2%

0/11 effective observations

Estimated BrS1 penetrance

5%

0/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

S1083C 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 (%)
-0.25 0.001 2.36 0.519 3 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 S1083C.
Neighbour residue Distance (Å) Observed variants
1068 15 G1068A, G1068D,
1069 14 T1069M,
1070 14
1071 13 E1071K, p.E1071GfsX76,
1072 13 p.E1072del,
1073 12
1074 11 S1074R, S1074R, S1074R, S1074G,
1075 11
1076 10
1077 9 c.3228+2delT,
1078 8
1079 8 S1079F, S1079T, S1079Y,
1080 7
1081 5
1082 4 V1082A,
1083 0 S1083C,
1084 4 G1084S, G1084R, G1084D,
1085 5
1086 7
1087 8
1088 8 A1088T, A1088V,
1089 9
1090 10 P1090Q, P1090L,
1091 11 D1091A, D1091Y,
1092 11
1093 12
1094 13
1095 13 W1095X, W1095C, W1095C,
1096 14 S1096C, S1096G,
1097 14 Q1097H, c.3288+2delT, Q1097H,
1098 15 V1098L, V1098L, V1098M,