SCN5A Variant A1941V

Summary of observed carriers, functional annotations, and structural context for SCN5A A1941V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

7%

0/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

A1941V has not been reported 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 (%)
NA NA NA 0.58 2 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 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 A1941V.
Neighbour residue Distance (Å) Observed variants
1926 15
1927 14 L1927P,
1928 14 F1928V,
1929 13 R1929C, R1929H,
1930 13 Q1930H,
1931 12
1932 11 A1932V,
1933 11 G1933V, G1933A, G1933D,
1934 10
1935 9 G1935S,
1936 8
1937 8 S1937A,
1938 7 E1938K, E1938X,
1939 5 p.E1939_E1943del,
1940 4
1941 0
1942 4 P1942S, P1942H,
1943 5
1944 7 R1944Q, R1944X,
1945 8
1946 8
1947 9
1948 10 I1948V,
1949 11 A1949T, A1949S,
1950 11 Y1950C,
1951 12 V1951L, V1951M,
1952 13
1953 13 p.S1953RfsX84,
1954 14 E1954K,
1955 14 N1955Y,
1956 15