SCN5A Variant S1834R

Summary of observed carriers, functional annotations, and structural context for SCN5A S1834R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/11 effective observations

Estimated BrS1 penetrance

3%

0/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

S1834R 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 (%)
-0.3 0.323 1.72 0.425 1 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 S1834R.
Neighbour residue Distance (Å) Observed variants
1852 15 D1852V,
1855 14
1826 13 R1826C, R1826H,
1811 12 Y1811X, Y1811N,
1814 10
1816 14 c.5445_5446insT, D1816N, D1816E, D1816E,
1863 12
1856 10
1825 13 L1825P,
1860 7 c.5577_5578dupAA,
1857 9
1853 12 I1853V,
1837 5
1848 14
1812 15 S1812X, S1812L,
1831 6
1858 14
1828 9 A1828T, A1828S,
1817 13
1829 11
1834 0 S1834R, S1834R, S1834R,
1836 6 I1836T,
1813 15
1827 7
1835 4 L1835F,
1839 11 D1839G,
1818 10
1833 5 I1833M,
1819 12 D1819N,
1821 14
1861 13 V1861I, V1861F,
1824 14 P1824A,
1841 14
1838 6
1832 6 Q1832E,
1830 9
1859 12
1840 10
1864 11
1820 15 A1820T, A1820V,
1815 10