SCN5A Variant G1068D

Summary of observed carriers, functional annotations, and structural context for SCN5A G1068D. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/12 effective observations

Estimated BrS1 penetrance

3%

0/12 effective observations

Total carriers

2

0 BrS1 · 0 LQT3 · 2 unaffected

G1068D is present in 2 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 (%)
0.6 0 0.29 0.123 1 4

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 – 2 2 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 G1068D.
Neighbour residue Distance (Å) Observed variants
1053 15 E1053K,
1054 14
1055 14 D1055G,
1056 13 T1056A,
1057 13
1058 12 c.3171_3172delTGinsA,
1059 11 Q1059X,
1060 11
1061 10 E1061D, E1061D,
1062 9 D1062H,
1063 8 E1063G,
1064 8 p.E1064del,
1065 7
1066 5 S1066G,
1067 4 L1067R,
1068 0 G1068A, G1068D,
1069 4 T1069M,
1070 5
1071 7 E1071K, p.E1071GfsX76,
1072 8 p.E1072del,
1073 8
1074 9 S1074R, S1074R, S1074R, S1074G,
1075 10
1076 11
1077 11 c.3228+2delT,
1078 12
1079 13 S1079F, S1079T, S1079Y,
1080 13
1081 14
1082 14 V1082A,
1083 15 S1083C,