SCN5A Variant A107D

Summary of observed carriers, functional annotations, and structural context for SCN5A A107D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

14%

0/10 effective observations

Estimated BrS1 penetrance

24%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

A107D 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 0.948 28 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 A107D.
Neighbour residue Distance (Å) Observed variants
92 15 c.274-24C>T, T92I,
93 14 F93S,
94 14 I94V, I94S,
95 13 V95I, V95L, V95L,
96 13
97 12
98 11
99 11
100 10
101 9 T101I,
102 8
103 8
104 7 R104G, R104W, R104Q,
105 5
106 4 S106T,
107 0
108 4
109 5 N109K, N109K,
110 7 A110T,
111 8
112 8 Y112C,
113 9 V113I, V113A,
114 10
115 11 S115G,
116 11
117 12
118 13
119 13 P119S, P119L,
120 14
121 14 R121W, R121Q
122 15