SCN5A Variant A1106T

Summary of observed carriers, functional annotations, and structural context for SCN5A A1106T. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

7%

0/12 effective observations

Estimated BrS1 penetrance

5%

0/12 effective observations

Total carriers

2

0 BrS1 · 0 LQT3 · 2 unaffected

A1106T is present in 2 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Mild_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 (%)
-0.26 0.149 1.31 0.511 0 12

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 – 2 2 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 A1106T.
Neighbour residue Distance (Å) Observed variants
1091 15 D1091Y, D1091A,
1092 14
1093 14
1094 13
1095 13 W1095C, W1095X, W1095C,
1096 12 S1096G, S1096C,
1097 11 Q1097H, Q1097H, c.3288+2delT,
1098 11 V1098L, V1098M, V1098L,
1099 10
1100 9 A1100T, A1100V,
1101 8
1102 8 A1102T,
1103 7 S1103F, S1103Y,
1104 5
1105 4 E1105V, E1105X,
1106 0 A1106T,
1107 4 E1107X, E1107K, p.E1107RfsX24,
1108 5
1109 7 S1109G,
1110 8
1111 8
1112 9 Q1112X,
1113 10 A1113V, A1113T,
1114 11 D1114E, D1114E, D1114N,
1115 11 W1115R, W1115R, W1115X,
1116 12 R1116Q, R1116W,
1117 13
1118 13 Q1118X,
1119 14
1120 14
1121 15 A1121V,