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

I788V is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 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 (%)
-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

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 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.

Previously observed variants near I788V.
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