SCN5A Variant W1115R

Summary of observed carriers, functional annotations, and structural context for SCN5A W1115R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

10%

0/11 effective observations

Estimated BrS1 penetrance

3%

0/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

W1115R is present in 1 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 (%)
-1.32 0 -0.17 0.254 2 11

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 W1115R.
Neighbour residue Distance (Å) Observed variants
1100 15 A1100T, A1100V,
1101 14
1102 14 A1102T,
1103 13 S1103Y, S1103F,
1104 13
1105 12 E1105V, E1105X,
1106 11 A1106T,
1107 11 p.E1107RfsX24, E1107K, E1107X,
1108 10
1109 9 S1109G,
1110 8
1111 8
1112 7 Q1112X,
1113 5 A1113T, A1113V,
1114 4 D1114E, D1114E, D1114N,
1115 0 W1115X, W1115R, W1115R,
1116 4 R1116W, R1116Q,
1117 5
1118 7 Q1118X
1119 8
1120 8
1121 9 A1121V,
1122 10
1123 11
1124 11
1125 12 A1125V, A1125G, A1125T,
1126 13
1127 13
1128 14 C1128X,
1129 14 G1129S,
1130 15 E1130K,