SCN5A Variant I1005V

Summary of observed carriers, functional annotations, and structural context for SCN5A I1005V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

3%

0/11 effective observations

Estimated BrS1 penetrance

6%

0/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

I1005V 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 (%)
-0.11 0 0.05 0.209 3 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

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 I1005V.
Neighbour residue Distance (Å) Observed variants
990 15
991 14 K991E, K991T,
992 14
993 13 A993T, A993S,
994 13 A994V, A994T,
995 12 L995F,
996 11 A996T,
997 11 A997T, A997D, A997S,
998 10
999 9 G999D,
1000 8 Q1000X, p.Gln1000del, Q1000L,
1001 8
1002 7 c.3005-3012delCCAGCTGG, P1002S,
1003 5
1004 4 C1004R,
1005 0 I1005T, I1005V,
1006 4 A1006S,
1007 5 T1007N, T1007I,
1008 7 P1008S,
1009 8
1010 8
1011 9 P1011L, P1011S,
1012 10
1013 11
1014 11 P1014S,
1015 12 p.G1015DfsX14, E1015K,
1016 13 c.3045_3046delGA, T1016M,
1017 13
1018 14 K1018E,
1019 14
1020 15