SCN5A Variant I141T

Summary of observed carriers, functional annotations, and structural context for SCN5A I141T. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

12%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

I141T has not been reported 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 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 0.959 7 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 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 I141T.
Neighbour residue Distance (Å) Observed variants
848 11 I848F,
223 10 V223L,
231 11 c.692_693delCA,
198 14
149 13
147 11
193 14 W193R, W193R, W193X,
164 8 F164L, F164L, F164L,
170 15 F170I,
228 7 K228R,
138 5 M138I, M138I, M138I,
227 10 L227P,
171 11
143 6
137 6 I137V,
142 5
197 10
229 7
163 13 c.486delC,
851 11 c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, F851L, F851L
196 12
169 14
852 12
222 11 R222X, R222Q, R222L,
224 11 L224F,
150 15
232 11 V232I, V232F,
133 12
132 14 c.393-5C>A,
160 13 p.V160fs,
134 11 N134S,
226 6 A226G, A226V,
166 13 A166T,
144 6
855 14
172 14
230 11 I230V, I230T, I230M,
199 15 S199T,
139 6 p.I137_C139dup,
148 10
165 12
204 14 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
146 10 V146M, V146A,
847 15
136 10 L136P,
168 8
175 14 K175N, K175N,
233 14
194 15
141 0 I141V, I141N,
135 11 M135V,
167 10
161 13 E161K, E161Q,
201 12
225 5 R225W, R225Q,
151 15
844 15 L844RfsX3,
200 11
140 5
145 6