SCN5A Variant V1903M

Summary of observed carriers, functional annotations, and structural context for SCN5A V1903M. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

6%

0/11 effective observations

Estimated BrS1 penetrance

6%

0/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

V1903M 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 (%)
-2.15 0.812 3.07 0.724 2 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 V1903M.
Neighbour residue Distance (Å) Observed variants
1888 15
1889 14 Y1889C,
1890 14 E1890K,
1891 13
1892 13
1893 12 c.5676delC,
1894 11
1895 11 T1895I
1896 10 L1896P, p.L1896PfsX47,
1897 9 R1897Y, R1897Q, R1897W,
1898 8 R1898C, R1898H,
1899 8
1900 7
1901 5 E1901K, E1901Q,
1902 4 E1902A,
1903 0 V1903M,
1904 4 S1904L,
1905 5
1906 7 M1906T, M1906V,
1907 8
1908 8 I1908V,
1909 9 Q1909R,
1910 10 R1910K,
1911 11
1912 11
1913 12 R1913S, R1913H, R1913C,
1914 13 R1914G,
1915 13 H1915Q, H1915Q, H1915P, H1915Y, H1915N,
1916 14
1917 14
1918 15