SCN5A Variant T143S

Summary of observed carriers, functional annotations, and structural context for SCN5A T143S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

3%

0/10 effective observations

Estimated BrS1 penetrance

15%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

T143S has not been reported in gnomAD. This residue resides in a Mild_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 0.834 12 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 T143S.
Neighbour residue Distance (Å) Observed variants
848 15 I848F,
223 13 V223L,
149 10
147 7
164 7 F164L, F164L, F164L,
228 14 K228R,
138 9 M138I, M138I, M138I,
171 15
143 0
137 10 I137V,
142 5
229 12
163 11 c.486delC,
851 13 c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, F851L, F851L
222 13 R222X, R222Q, R222L,
150 10
232 14 V232I, V232F,
157 12 T157I,
160 9 p.V160fs,
134 15 N134S,
226 11 A226G, A226V,
166 14 A166T,
144 5
855 14
139 6 p.I137_C139dup,
148 9
165 13
146 5 V146M, V146A,
136 11 L136P,
168 11
141 6 I141V, I141N,
135 13 M135V,
167 11
161 11 E161K, E161Q,
225 11 R225W, R225Q,
151 12
159 13 Y159C, Y159X,
145 6
140 5