SCN5A Variant G180D

Summary of observed carriers, functional annotations, and structural context for SCN5A G180D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

48%

4/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

G180D has not been reported in gnomAD. This residue resides in a Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 4 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 0.978 72 0

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 11 0 4 – –

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 G180D.
Neighbour residue Distance (Å) Observed variants
175 9 K175N, K175N,
197 15
113 6 V113I, V113A,
194 12
188 7
178 6 A178G,
190 14 R190G, R190W, R190Q, R190L
128 12 c.381dupT,
117 14
179 6 R179X, R179Q,
119 15 P119S, P119L,
177 6 L177P,
189 12
123 14 A123G, A123V,
121 8 R121W, R121Q,
198 12
124 11 A124D,
118 12
125 11 V125L, V125L,
181 5
176 5
172 11
174 10 V174I,
185 6 A185T, A185V,
115 9 S115G,
186 10
182 6 C182R, C182Y,
173 10
112 8 Y112C,
114 5
184 4 H184R,
191 14
116 10
187 9 T187S, T187S, T187I,
180 0 G180V,
170 15 F170I,
120 13
183 7
122 13
171 14