SCN5A Variant G319S
Summary of observed carriers, functional annotations, and structural context for SCN5A G319S. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
6%
1/26 effective observations
Estimated BrS1 penetrance
9%
2/26 effective observations
Total carriers
16
1 BrS1 · 1 LQT3 · 14 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-5.29 | 0.058 | -0.87 | 0.79 | 13 | 2 |
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 |
---|---|---|---|---|---|---|---|
11076825 | 2000 | 1 | 0 | 1 | 0 | ||
11901046 | 2002 | 1 | 0 | 1 | 0 | ||
16712702 | 2006 | 1 | 0 | 0 | 1 | Sudden adult death syndrome | |
24606995 | 2014 | 1 | 1 | 0 | 0 | ||
Literature, cohort, and gnomAD | – | 16 | 14 | 1 | 1 | – | |
Variant features alone | – | 15 | 14 | 0 | 1 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Functional data
Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.
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 |
---|---|---|
287 | 14 | |
341 | 15 | C341Y, |
342 | 12 | |
339 | 12 | |
346 | 13 | E346K, E346G, E346D, E346D, E346X, |
319 | 0 | G319C, G319R, G319S, |
317 | 7 | K317E, K317N, K317M, K317N, |
284 | 10 | |
282 | 8 | R282C, R282H, |
279 | 11 | |
321 | 7 | S321Y, |
344 | 11 | A344S, |
340 | 12 | R340W, R340Q, |
285 | 9 | T285K, |
338 | 13 | |
345 | 11 | |
322 | 11 | |
280 | 11 | C280Y, |
318 | 5 | |
281 | 8 | V281M, |
323 | 11 | |
283 | 10 | |
286 | 13 | A286V, A286S, |
320 | 3 | T320N, |