SCN5A Variant V1098M

Summary of observed carriers, functional annotations, and structural context for SCN5A V1098M. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

0%

0/12 effective observations

Estimated BrS1 penetrance

11%

1/12 effective observations

Total carriers

2

0 BrS1 · 0 LQT3 · 2 unaffected

V1098M 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 1 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 (%)
-0.19 0.527 -1.73 0.535 8 3

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 14 0 1 – –

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 V1098M.
Neighbour residue Distance (Å) Observed variants
1083 15 S1083C,
1084 14 G1084S, G1084R, G1084D,
1085 14
1086 13
1087 13
1088 12 A1088T, A1088V,
1089 11
1090 11 P1090Q, P1090L,
1091 10 D1091A, D1091Y,
1092 9
1093 8
1094 8
1095 7 W1095X, W1095C, W1095C,
1096 5 S1096C, S1096G,
1097 4 Q1097H, c.3288+2delT, Q1097H,
1098 0 V1098L, V1098L, V1098M,
1099 4
1100 5 A1100T, A1100V,
1101 7
1102 8 A1102T,
1103 8 S1103F, S1103Y,
1104 9
1105 10 E1105V, E1105X,
1106 11 A1106T,
1107 11 p.E1107RfsX24, E1107X, E1107K,
1108 12
1109 13 S1109G,
1110 13
1111 14
1112 14 Q1112X,
1113 15 A1113T, A1113V,