SCN5A Variant G235R
Summary of observed carriers, functional annotations, and structural context for SCN5A G235R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
14%
0/11 effective observations
Estimated BrS1 penetrance
23%
2/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-7.56 | 0.968 | -2.62 | 0.946 | 29 | 17 |
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
Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
Literature, cohort, and gnomAD | – | 1 | 1 | 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.
Neighbour residue | Distance (Å) | Observed variants |
---|---|---|
848 | 14 | I848F, |
937 | 13 | |
839 | 12 | L839P, |
842 | 10 | |
240 | 9 | V240M, |
231 | 9 | c.692_693delCA, |
193 | 15 | W193R, W193R, W193X, |
237 | 6 | |
228 | 14 | K228R, |
836 | 12 | V836M, |
234 | 4 | P234S, |
229 | 13 | |
933 | 14 | |
845 | 11 | c.2533delG, |
232 | 9 | V232F, V232I, |
244 | 14 | |
420 | 11 | |
241 | 10 | |
235 | 0 | G235R, c.704-1G>C, G235R, c.703+1G>A, |
840 | 10 | |
843 | 13 | T843A, |
419 | 10 | Q419X, |
423 | 10 | |
834 | 15 | N834D, |
837 | 8 | |
239 | 7 | I239V , I239V, |
230 | 10 | I230M, I230T, I230V, |
242 | 11 | A242D, |
416 | 12 | Y416C, |
841 | 6 | N841K, p.N841TfsX2, N841K, |
236 | 4 | |
238 | 5 | |
233 | 6 | |
838 | 8 | |
422 | 13 | |
844 | 11 | L844RfsX3, |
243 | 13 | |
835 | 12 | S835L, S835A, |