SCN5A Variant L111M

Summary of observed carriers, functional annotations, and structural context for SCN5A L111M. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

18%

0/10 effective observations

Estimated BrS1 penetrance

14%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

L111M 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 0.715 12 22

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 L111M.
Neighbour residue Distance (Å) Observed variants
96 15
97 14
98 14
99 13
100 13
101 12 T101I,
102 11
103 11
104 10 R104G, R104W, R104Q,
105 9
106 8 S106T,
107 8
108 7
109 5 N109K, N109K,
110 4 A110T,
111 0
112 4 Y112C,
113 5 V113I, V113A,
114 7
115 8 S115G,
116 8
117 9
118 10
119 11 P119S, P119L,
120 11
121 12 R121W, R121Q,
122 13
123 13 A123G, A123V,
124 14 A124D,
125 14 V125L, V125L,
126 15 K126E