SCN5A Variant S172C

Summary of observed carriers, functional annotations, and structural context for SCN5A S172C. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

25%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

S172C 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 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 0.85 31 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 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 S172C.
Neighbour residue Distance (Å) Observed variants
121 14 R121W, R121Q,
198 6
124 11 A124D,
164 14 F164L, F164L, F164L,
195 13
114 14
170 7 F170I,
184 13 H184R,
228 14 K228R
138 15 M138I, M138I, M138I,
171 5
137 11 I137V,
197 8
129 14
163 15 c.486delC,
196 13
169 5
177 8 L177P,
189 12
123 15 A123G, A123V,
127 12
125 13 V125L, V125L,
174 6 V174I,
133 11
182 14 C182R, C182Y,
191 14
134 13 N134S,
205 11 c.612-2A>G, Y205X,
166 10 A166T,
179 11 R179X, R179Q,
172 0
185 11 A185T, A185V,
199 11 S199T,
165 10
180 11 G180V,
204 13 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
203 14
136 15 L136P,
168 8
175 5 K175N, K175N,
202 10 I202T,
194 10
141 14 I141V, I141N,
188 9
167 9
178 10 A178G,
128 10 c.381dupT,
201 8
225 12 R225W, R225Q,
181 12
176 6
173 5
200 11
140 14
187 14 T187S, T187S, T187I,