SCN5A Variant H130N

Summary of observed carriers, functional annotations, and structural context for SCN5A H130N. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

3%

0/10 effective observations

Estimated BrS1 penetrance

45%

4/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

H130N has not been reported in gnomAD. This residue resides in a Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 4 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 (%)
NA NA NA 0.68 67 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 – 0 0 0 0 –
Variant features alone – 15 11 0 4 – –

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 H130N.
Neighbour residue Distance (Å) Observed variants
171 13
126 8 K126E,
136 10 L136P,
175 13 K175N, K175N,
129 6
135 8 M135V,
178 13 A178G,
128 8 c.381dupT,
179 15 R179X, R179Q
123 11 A123G, A123V,
127 6
124 10 A124D,
125 10 V125L, V125L,
131 4
174 12 V174I,
133 6
139 14 p.I137_C139dup,
132 5 c.393-5C>A,
130 0
138 13 M138I, M138I, M138I,
134 7 N134S,
170 14 F170I,
122 15
137 11 I137V,