SCN5A Variant D152E

Summary of observed carriers, functional annotations, and structural context for SCN5A D152E. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

2%

0/10 effective observations

Estimated BrS1 penetrance

6%

0/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

D152E has not been reported 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 (%)
NA NA NA 0.255 2 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 – 0 0 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 D152E.
Neighbour residue Distance (Å) Observed variants
880 12
888 14
154 6 P154L,
856 14 V856L, V856L,
862 12
859 12
1445 15 Y1445H
1447 15
1444 13 L1444I,
153 5
149 6
147 10
863 14
887 11
156 9 W156R, W156R, W156X,
886 11 H886P, H886Q, H886Q,
851 13 c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, F851L, F851L,
854 12 c.2559delT,
155 9
857 13 G857D,
150 6
157 12 T157I,
882 8
881 12
889 15
858 8 M858L, M858L,
144 14
855 11
865 15
148 9
884 8
866 14 S866P, S866L,
885 9
146 11 V146M, V146A,
1441 13 E1441Q,
152 0 D152N,
161 15 E161K, E161Q,
219 13 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
151 6
883 6
145 13