SCN5A Variant W156R

Summary of observed carriers, functional annotations, and structural context for SCN5A W156R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

9%

0/11 effective observations

Estimated BrS1 penetrance

17%

1/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

W156R 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 1 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 (%)
-10.97 0.987 -2.69 0.893 6 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 – 1 1 0 0 –
Variant features alone – 15 14 0 1 – –

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 W156R.
Neighbour residue Distance (Å) Observed variants
154 5 P154L,
862 15
859 12
153 8
149 11
147 9
164 14 F164L, F164L, F164L,
863 14
156 0 W156R, W156R, W156X,
158 7 K158T,
163 15 c.486delC,
216 15 S216X, S216L,
222 13 R222X, R222Q, R222L,
155 5
150 10
157 6 T157I,
882 14
160 10 p.V160fs,
858 13 M858L, M858L
144 14
855 15
148 11
210 15 I210T,
162 12 Y162H, Y162C,
146 14 V146M, V146A,
208 14 E208K,
152 9 D152N,
161 9 E161K, E161Q,
219 10 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
151 6
159 10 Y159C, Y159X,
883 14
207 14
212 14 L212Q, L212P,