SCN5A Variant V146G

Summary of observed carriers, functional annotations, and structural context for SCN5A V146G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

3%

0/10 effective observations

Estimated BrS1 penetrance

9%

0/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

V146G 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 0.85 3 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 V146G.
Neighbour residue Distance (Å) Observed variants
888 15
154 14 P154L,
848 13 I848F,
223 12 V223L,
153 12
149 5
147 6
164 11 F164L, F164L, F164L,
138 13 M138I, M138I, M138I,
143 5
142 7
156 14 W156R, W156R, W156X,
229 13
163 15 c.486delC,
851 10 c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, F851L, F851L,
852 13
854 14 c.2559delT,
222 13 R222X, R222Q, R222L,
155 13
150 6
157 12 T157I,
160 11 p.V160fs,
226 12 A226G, A226V,
858 14 M858L, M858L
144 6
855 11
139 11 p.I137_C139dup,
148 7
884 10
885 13
146 0 V146M, V146A,
847 14
152 11 D152N,
141 10 I141V, I141N,
161 13 E161K, E161Q,
225 14 R225W, R225Q,
151 9
159 15 Y159C, Y159X,
883 14
145 5
140 10