SCN5A Variant V129F

Summary of observed carriers, functional annotations, and structural context for SCN5A V129F. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

3%

0/10 effective observations

Estimated BrS1 penetrance

48%

4/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

V129F 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 0.68 73 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 V129F.
Neighbour residue Distance (Å) Observed variants
126 7 K126E,
136 13 L136P,
175 10 K175N, K175N,
129 0
194 15
188 15
135 11 M135V,
178 9 A178G,
128 4 c.381dupT,
179 10 R179X, R179Q
177 13 L177P,
123 10 A123G, A123V,
121 12 R121W, R121Q,
127 7
124 8 A124D,
125 6 V125L, V125L,
176 14
172 14
131 7
174 10 V174I,
133 8
122 12
173 15
132 10 c.393-5C>A,
130 6
138 14 M138I, M138I, M138I,
134 7 N134S,
170 14 F170I,
120 15
171 12
137 12 I137V,