SCN5A Variant I788V
Summary of observed carriers, functional annotations, and structural context for SCN5A I788V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/11 effective observations
Estimated BrS1 penetrance
5%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -0.99 | 0.476 | 4.72 | 0.635 | 7 | 1 |
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 | 15 | 0 | 0 | – | – |
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 |
|---|---|---|
| 723 | 12 | I723V, |
| 758 | 11 | G758E, |
| 811 | 9 | c.2435_2436+3delTGGTAinsCGCCT, R811H, R811G |
| 808 | 13 | R808H, R808P, R808C, |
| 760 | 8 | p.F760SfsX5, |
| 776 | 13 | p.Y776del, |
| 780 | 12 | |
| 765 | 13 | |
| 812 | 10 | L812Q, |
| 759 | 12 | c.2274delG, p.I759FfsX6, I759V, |
| 792 | 6 | |
| 764 | 9 | M764K, M764R, |
| 755 | 15 | |
| 777 | 13 | F777L, F777L, F777L, |
| 791 | 6 | L791F, |
| 731 | 14 | T731I, |
| 806 | 14 | V806M, |
| 754 | 14 | |
| 819 | 14 | |
| 726 | 13 | |
| 818 | 12 | |
| 781 | 11 | W781X, |
| 720 | 15 | |
| 788 | 0 | I788V, |
| 724 | 14 | T724I, |
| 782 | 10 | N782T, |
| 793 | 9 | L793F, |
| 820 | 13 | |
| 762 | 12 | |
| 810 | 8 | |
| 727 | 11 | |
| 767 | 13 | |
| 734 | 13 | c.2201dupT, M734V, |
| 756 | 12 | |
| 814 | 5 | R814Q, |
| 807 | 11 | |
| 816 | 10 | F816L, F816Y, F816L, F816L, |
| 813 | 6 | c.2436+12G>A, c.2437-5C>A, |
| 757 | 9 | |
| 768 | 14 | |
| 786 | 6 | |
| 817 | 8 | K817E, |
| 761 | 9 | |
| 779 | 15 | Q779X, Q779K, |
| 809 | 11 | |
| 815 | 10 | |
| 790 | 7 | |
| 784 | 6 | F784L, F784L, F784L, |
| 763 | 12 | E763K, E763D, E763D, |
| 796 | 12 | |
| 785 | 5 | D785N, |
| 783 | 10 | I783T, |
| 730 | 11 | N730K, N730K, |
| 789 | 5 | V789A, V789I, |
| 753 | 13 | |
| 1347 | 15 | |
| 795 | 11 | |
| 787 | 5 | |
| 794 | 10 |