SCN5A Variant A123V

Summary of observed carriers, functional annotations, and structural context for SCN5A A123V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0%

0/29 effective observations

Estimated BrS1 penetrance

5%

1/29 effective observations

Total carriers

19

0 BrS1 · 0 LQT3 · 19 unaffected

A123V is present in 19 alleles 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 (%)
0.92 0 0.39 0.244 20 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 – 19 19 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 A123V.
Neighbour residue Distance (Å) Observed variants
126 4 K126E,
175 13 K175N, K175N,
129 10
178 9 A178G,
128 9 c.381dupT,
117 13
119 7 P119S, P119L,
179 12 R179X, R179Q,
177 9 L177P,
123 0 A123G, A123V,
121 7 R121W, R121Q,
127 6
124 4 A124D,
118 10
125 5 V125L, V125L,
176 13
172 15
131 15
174 9 V174I,
133 12
115 13 S115G,
173 12
132 14 c.393-5C>A,
114 13
130 11
170 12 F170I,
116 12
134 15 N134S,
180 14 G180V
120 6
122 6
171 14