SCN5A Variant V160D

Summary of observed carriers, functional annotations, and structural context for SCN5A V160D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

44%

4/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

V160D has not been reported in gnomAD. This residue resides in a Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 4 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 0.979 63 1

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 11 0 4 – –

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 V160D.
Neighbour residue Distance (Å) Observed variants
208 12 E208K,
154 13 P154L,
142 14
156 10 W156R, W156R, W156X,
168 11
158 7 K158T,
163 5 c.486delC,
166 10 A166T,
141 13 I141V, I141N,
167 10
161 5 E161K, E161Q,
219 14 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
137 15 I137V,
225 15 R225W, R225Q
169 14
144 9
151 11
222 12 R222X, R222Q, R222L,
159 4 Y159C, Y159X,
153 14
155 11
149 13
147 7
207 14
150 11
164 5 F164L, F164L, F164L,
139 14 p.I137_C139dup,
157 5 T157I,
148 11
160 0 p.V160fs,
165 9
145 13
140 10
204 13 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
162 7 Y162H, Y162C,
143 9
146 11 V146M, V146A,