SCN5A Variant A110V

Summary of observed carriers, functional annotations, and structural context for SCN5A A110V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

17%

0/10 effective observations

Estimated BrS1 penetrance

16%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

A110V has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Mild_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 0.959 14 19

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 A110V.
Neighbour residue Distance (Å) Observed variants
95 15 V95I, V95L, V95L,
96 14
97 14
98 13
99 13
100 12
101 11 T101I,
102 11
103 10
104 9 R104G, R104W, R104Q,
105 8
106 8 S106T,
107 7
108 5
109 4 N109K, N109K,
110 0 A110T,
111 4
112 5 Y112C,
113 7 V113I, V113A,
114 8
115 8 S115G,
116 9
117 10
118 11
119 11 P119S, P119L,
120 12
121 13 R121W, R121Q,
122 13
123 14 A123G, A123V,
124 14 A124D,
125 15 V125L, V125L