SCN5A Variant T187S

Summary of observed carriers, functional annotations, and structural context for SCN5A T187S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/14 effective observations

Estimated BrS1 penetrance

19%

2/14 effective observations

Total carriers

4

0 BrS1 · 0 LQT3 · 4 unaffected

T187S is present in 4 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_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 (%)
-3.43 0.992 3.08 0.784 40 1

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 – 4 4 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 T187S.
Neighbour residue Distance (Å) Observed variants
192 10
175 11 K175N, K175N,
197 13
113 12 V113I, V113A,
194 8
188 5
178 12 A178G,
196 13
190 5 R190L, R190W, R190G, R190Q,
179 9 R179X, R179Q,
177 14 L177P,
189 6
198 11
181 12
176 10
172 14
174 15 V174I,
193 13 W193R, W193R, W193X,
185 5 A185T, A185V,
199 14 S199T,
186 4
195 11
182 9 C182R, C182Y,
112 12 Y112C,
114 13
184 5 H184R,
191 7
187 0 T187S, T187S, T187I,
180 9 G180V,
183 7