SCN5A Variant C182Y

Summary of observed carriers, functional annotations, and structural context for SCN5A C182Y. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

11%

0/11 effective observations

Estimated BrS1 penetrance

32%

3/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

C182Y is present in 1 alleles 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 3 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 (%)
-10.54 0.998 -0.32 0.928 47 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 – 1 1 0 0 –
Variant features alone – 15 12 0 3 – –

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 C182Y.
Neighbour residue Distance (Å) Observed variants
175 14 K175N
113 6 V113I, V113A,
194 15
188 10
178 13 A178G,
190 13 R190L, R190W, R190G, R190Q,
179 12 R179Q, R179X,
177 12 L177P,
189 11
121 14 R121W, R121Q,
198 14
181 5
176 9
172 14
185 6 A185T, A185V,
115 13 S115G,
186 8
182 0 C182Y, C182R,
173 14
112 10 Y112C,
114 9
184 7 H184R,
116 15
187 9 T187S, T187I,
180 6 G180V,
183 4