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 | R811G, R811H, c.2435_2436+3delTGGTAinsCGCCT, |
808 | 13 | R808C, R808H, R808P, |
760 | 8 | p.F760SfsX5, |
776 | 13 | p.Y776del, |
780 | 12 | |
765 | 13 | |
812 | 10 | L812Q, |
759 | 12 | I759V, c.2274delG, p.I759FfsX6, |
792 | 6 | |
764 | 9 | M764K, M764R, |
755 | 15 | |
777 | 13 | 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 | F816Y, F816L, |
813 | 6 | c.2437-5C>A, c.2436+12G>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, |
763 | 12 | E763D, E763K |
796 | 12 | |
785 | 5 | D785N, |
783 | 10 | I783T, |
730 | 11 | N730K, |
789 | 5 | V789A, V789I, |
753 | 13 | |
1347 | 15 | |
795 | 11 | |
787 | 5 | |
794 | 10 |