SCN5A Variant E171D

Summary of observed carriers, functional annotations, and structural context for SCN5A E171D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

19%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

E171D has not been reported in gnomAD. This residue resides in a Mild_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 (%)
NA NA NA 0.848 21 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 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 E171D.
Neighbour residue Distance (Å) Observed variants
231 15 c.692_693delCA
198 8
124 11 A124D,
131 14
193 14 W193R, W193R, W193X,
164 11 F164L, F164L, F164L,
195 14
130 13
170 6 F170I,
228 11 K228R,
138 10 M138I, M138I, M138I,
171 0
143 15
137 6 I137V,
142 15
197 7
229 15
129 12
163 13 c.486delC,
196 12
169 7
177 11 L177P,
189 14
123 14 A123G, A123V,
222 15 R222X, R222Q, R222L,
127 10
125 13 V125L, V125L,
174 6 V174I,
133 7
132 13 c.393-5C>A,
191 15
134 9 N134S,
226 14 A226G, A226V,
205 14 c.612-2A>G, Y205X,
166 9 A166T,
179 13 R179X, R179Q,
144 14
172 5
185 14 A185T, A185V,
199 12 S199T,
139 13 p.I137_C139dup,
165 10
180 14 G180V,
204 13 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
136 10 L136P,
168 6
175 5 K175N, K175N,
202 13 I202T,
194 10
141 11 I141V, I141N,
188 11
135 13 M135V,
167 7
178 11 A178G,
128 8 c.381dupT,
201 9
225 9 R225W, R225Q,
176 9
173 7
200 12
140 10