SCN5A Variant T108N

Summary of observed carriers, functional annotations, and structural context for SCN5A T108N. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

13%

0/10 effective observations

Estimated BrS1 penetrance

27%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

T108N 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 2 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 0.872 35 14

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 13 0 2 – –

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 T108N.
Neighbour residue Distance (Å) Observed variants
93 15 F93S,
94 14 I94V, I94S,
95 14 V95I, V95L, V95L,
96 13
97 13
98 12
99 11
100 11
101 10 T101I,
102 9
103 8
104 8 R104G, R104W, R104Q,
105 7
106 5 S106T,
107 4
108 0
109 4 N109K, N109K,
110 5 A110T,
111 7
112 8 Y112C,
113 8 V113I, V113A,
114 9
115 10 S115G,
116 11
117 11
118 12
119 13 P119S, P119L,
120 13
121 14 R121W, R121Q,
122 14
123 15 A123G, A123V