SCN5A Variant D1091Y

Summary of observed carriers, functional annotations, and structural context for SCN5A D1091Y. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/11 effective observations

Estimated BrS1 penetrance

5%

0/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

D1091Y 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 (%)
-0.8 0.331 0.24 0.189 1 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 D1091Y.
Neighbour residue Distance (Å) Observed variants
1076 15
1077 14 c.3228+2delT,
1078 14
1079 13 S1079T, S1079F, S1079Y,
1080 13
1081 12
1082 11 V1082A,
1083 11 S1083C,
1084 10 G1084S, G1084R, G1084D,
1085 9
1086 8
1087 8
1088 7 A1088T, A1088V,
1089 5
1090 4 P1090Q, P1090L,
1091 0 D1091A, D1091Y,
1092 4
1093 5
1094 7
1095 8 W1095X, W1095C, W1095C,
1096 8 S1096C, S1096G,
1097 9 Q1097H, c.3288+2delT, Q1097H,
1098 10 V1098L, V1098L, V1098M,
1099 11
1100 11 A1100T, A1100V,
1101 12
1102 13 A1102T,
1103 13 S1103F, S1103Y,
1104 14
1105 14 E1105V, E1105X,
1106 15 A1106T,